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Headache

MedGen UID:
472355
Concept ID:
C2096315
Finding
Synonyms: Headaches
 
HPO: HP:0002315

Conditions with this feature

Chinese restaurant syndrome
MedGen UID:
891
Concept ID:
C0008127
Disease or Syndrome
Diaphyseal dysplasia
MedGen UID:
4268
Concept ID:
C0011989
Congenital Abnormality
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, severe limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.
Kartagener syndrome
MedGen UID:
9615
Concept ID:
C0022521
Disease or Syndrome
Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic oto-sino-pulmonary disease. More than 75% of full-term neonates with PCD have 'neonatal respiratory distress' requiring supplemental oxygen for days to weeks. Chronic airway infection, apparent in early childhood, results in bronchiectasis that is almost uniformly present in adulthood. Nasal congestion and sinus infections, apparent in early childhood, persist through adulthood. Chronic/recurrent ear infection, apparent in most young children, can be associated with transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 50% of individuals with PCD; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 6%. Approximately 50% of males with PCD are infertile as a result of abnormal sperm motility.
Neurofibromatosis, type 2
MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop.
Polyarteritis nodosa
MedGen UID:
14681
Concept ID:
C0031036
Disease or Syndrome
Childhood-onset polyarteritis nodosa is an autosomal recessive systemic vascular inflammatory disorder characterized mainly by involvement of the skin, nervous system, kidney, and gastrointestinal tract. There is considerable variability in the severity and age at onset, although most patients have onset of symptoms in the first decade. Features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, elevated acute-phase proteins, myalgias, and livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients develop hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency van Eyck et al., 2014).
Sclerosteosis
MedGen UID:
120530
Concept ID:
C0265301
Congenital Abnormality
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease; both are disorders of osteoblast hyperactivity. The major clinical features of sclerosteosis are progressive skeletal overgrowth and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Distinctive facial features including asymmetric mandibular hypertrophy, frontal bossing, and midface hypoplasia are usually apparent by mid-childhood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (often leading to facial palsy) and entrapment of the eighth cranial nerve (often resulting in deafness in mid-childhood). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent. Based on a few case reports, it is also likely that the spectrum of SOST-related sclerosing bone dysplasias includes an autosomal dominant form of craniodiaphyseal dysplasia (CDD).
Deficiency of cytochrome-b5 reductase
MedGen UID:
75661
Concept ID:
C0268193
Disease or Syndrome
Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by Percy and Lappin, 2008). There are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids (Vives-Corrons et al., 1978; Kaplan et al., 1979).
Idiopathic livedo reticularis with systemic involvement
MedGen UID:
76449
Concept ID:
C0282492
Disease or Syndrome
Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).
Hyperimmunoglobulin D with periodic fever
MedGen UID:
140768
Concept ID:
C0398691
Disease or Syndrome
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA). During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. A small number of people with HIDS have intellectual disability, problems with movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why people with HIDS have high levels of IgD and IgA. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy. People with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, progressive ataxia, progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.
Osteopathia striata with cranial sclerosis
MedGen UID:
96590
Concept ID:
C0432268
Disease or Syndrome
Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH; 305600). Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000).
Hyperphosphatasemia tarda
MedGen UID:
98484
Concept ID:
C0432272
Congenital Abnormality
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease; both are disorders of osteoblast hyperactivity. The major clinical features of sclerosteosis are progressive skeletal overgrowth and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Distinctive facial features including asymmetric mandibular hypertrophy, frontal bossing, and midface hypoplasia are usually apparent by mid-childhood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (often leading to facial palsy) and entrapment of the eighth cranial nerve (often resulting in deafness in mid-childhood). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent. Based on a few case reports, it is also likely that the spectrum of SOST-related sclerosing bone dysplasias includes an autosomal dominant form of craniodiaphyseal dysplasia (CDD).
Vibratory angioedema
MedGen UID:
99175
Concept ID:
C0473546
Disease or Syndrome
Chiari malformation type I
MedGen UID:
196689
Concept ID:
C0750929
Disease or Syndrome
Chiari malformation type I (CM1) is the protrusion of the cerebellar tonsils through the foramen magnum, defined radiologically as tonsillar descent of 5 mm or more. CM1 is associated with syringomyelia (see 186700) in up to 80% of cases. Although many individuals with CM1 are asymptomatic, the malformation can cause headaches, ocular disturbances, otoneurologic disturbances, lower cranial nerve signs, cerebellar ataxia, or spasticity. Onset of symptoms is usually in the third decade of life (Speer et al., 2003). Since many cases of CM1 are asymptomatic, prevalence estimates may not be accurate. However, a retrospective investigation of brain MRIs reported the prevalence of CM1 to be 1 in 1,280 individuals (Meadows et al., 2000).
Episodic ataxia type 1
MedGen UID:
318554
Concept ID:
C1719788
Disease or Syndrome
Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other findings can include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, onset is in childhood or early adolescence.
Choreoathetosis/spasticity, episodic
MedGen UID:
371427
Concept ID:
C1832855
Disease or Syndrome
Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).
Enamel hypoplasia, cataracts, and aqueductal stenosis
MedGen UID:
371497
Concept ID:
C1833163
Disease or Syndrome
Ectodermal dysplasia mental retardation syndactyly
MedGen UID:
322135
Concept ID:
C1833169
Disease or Syndrome
Erythrocytosis, familial, 2
MedGen UID:
332974
Concept ID:
C1837915
Disease or Syndrome
Familial erythrocytosis-2 is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors are also hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005).
Sacral defect with anterior meningocele
MedGen UID:
325455
Concept ID:
C1838568
Disease or Syndrome
Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.
Hyperthermia, cutaneous, with headaches and nausea
MedGen UID:
374453
Concept ID:
C1840373
Disease or Syndrome
Osteopetrosis autosomal dominant type 1
MedGen UID:
335932
Concept ID:
C1843330
Disease or Syndrome
The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate. Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is characterized by sclerosis predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications. Genetic Heterogeneity of Autosomal Dominant Osteopetrosis Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13.
Episodic ataxia, type 3
MedGen UID:
376220
Concept ID:
C1847839
Disease or Syndrome
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosomal locus) in which pathogenic variants occur.
Familial erythrocytosis, 1
MedGen UID:
343583
Concept ID:
C1851490
Disease or Syndrome
Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). Genetic Heterogeneity of Familial Erythrocytosis See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; and ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p. Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively. For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014).
Deafness, sensorineural, with peripheral neuropathy and arterial disease
MedGen UID:
343766
Concept ID:
C1852280
Disease or Syndrome
Cerebral cavernous malformation
MedGen UID:
349362
Concept ID:
C1861784
Disease or Syndrome
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with CCM remain symptom free throughout their lives. Familial cerebral cavernous malformation (FCCM) is defined as the occurrence of CCMs in at least two family members and/or the presence of multiple CCMs and/or the presence of a disease-causing mutation in one of the three genes in which mutations are known to cause familial CCM. Cutaneous vascular lesions are found in 9% of those with FCCM and retinal vascular lesions in almost 5%.
Arteritis, familial granulomatous, with juvenile polyarthritis
MedGen UID:
349529
Concept ID:
C1862510
Disease or Syndrome
Cerebral cavernous malformations 3
MedGen UID:
355121
Concept ID:
C1864040
Disease or Syndrome
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with CCM remain symptom free throughout their lives. Familial cerebral cavernous malformation (FCCM) is defined as the occurrence of CCMs in at least two family members and/or the presence of multiple CCMs and/or the presence of a disease-causing mutation in one of the three genes in which mutations are known to cause familial CCM. Cutaneous vascular lesions are found in 9% of those with FCCM and retinal vascular lesions in almost 5%.
Cerebral cavernous malformations 2
MedGen UID:
400438
Concept ID:
C1864041
Disease or Syndrome
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with CCM remain symptom free throughout their lives. Familial cerebral cavernous malformation (FCCM) is defined as the occurrence of CCMs in at least two family members and/or the presence of multiple CCMs and/or the presence of a disease-causing mutation in one of the three genes in which mutations are known to cause familial CCM. Cutaneous vascular lesions are found in 9% of those with FCCM and retinal vascular lesions in almost 5%.
Parietal foramina
MedGen UID:
358250
Concept ID:
C1868598
Disease or Syndrome
Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex.
Craniodiaphyseal dysplasia, autosomal dominant
MedGen UID:
382678
Concept ID:
C2675746
Disease or Syndrome
Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).
Amyloidogenic transthyretin amyloidosis
MedGen UID:
414031
Concept ID:
C2751492
Disease or Syndrome
Familial transthyretin (TTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor neuropathy and autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage.
Rajab syndrome
MedGen UID:
462260
Concept ID:
C3150910
Disease or Syndrome
Hypomagnesemia 6, renal
MedGen UID:
462645
Concept ID:
C3151295
Disease or Syndrome
Paroxysmal nocturnal hemoglobinuria 2
MedGen UID:
815699
Concept ID:
C3809369
Disease or Syndrome
Leukoencephalopathy with ataxia
MedGen UID:
816572
Concept ID:
C3810242
Disease or Syndrome
Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by Depienne et al., 2013).
Alternating hemiplegia of childhood 1
MedGen UID:
762361
Concept ID:
C3549447
Disease or Syndrome
Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (Mikati et al., 1992). The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; 141500) and GLUT1 deficiency syndrome (606777) (Rotstein et al., 2009). Genetic Heterogeneity of Alternating Hemiplegia of Childhood See also AHC2 (614820), caused by mutation in the ATP1A3 gene (182350).

Recent clinical studies

Etiology

Toldo I, Tangari M, Mardari R, Perissinotto E, Sartori S, Gatta M, Calderone M, Battistella PA
Headache 2014 May;54(5):899-908. Epub 2014 Apr 25 doi: 10.1111/head.12341. [Epub ahead of print] PMID: 24766291
Gini G, Pozzoli T, Lenzi M, Vieno A
Headache 2014 Jun;54(6):976-86. Epub 2014 Apr 2 doi: 10.1111/head.12344. [Epub ahead of print] PMID: 24697284
John S, Hajj-Ali RA
Headache 2014 Mar;54(3):572-82. Epub 2014 Feb 14 doi: 10.1111/head.12306. [Epub ahead of print] PMID: 24527723
Chai NC, Scher AI, Moghekar A, Bond DS, Peterlin BL
Headache 2014 Feb;54(2):219-34. doi: 10.1111/head.12296. PMID: 24512574Free PMC Article
Ruscheweyh R, Müller M, Blum B, Straube A
Headache 2014 May;54(5):861-71. Epub 2013 Aug 23 doi: 10.1111/head.12195. [Epub ahead of print] PMID: 23980919

Diagnosis

Martin VT, Neilson D
Headache 2014 Sep;54(8):1403-11. Epub 2014 Jun 23 doi: 10.1111/head.12417. [Epub ahead of print] PMID: 24958300
López-Ruiz P, Cuadrado ML, Aledo-Serrano A, Alonso-Oviés A, Porta-Etessam J, Ganado T
Headache 2014 Jul-Aug;54(7):1217-21. Epub 2014 May 21 doi: 10.1111/head.12398. [Epub ahead of print] PMID: 24845308
Viana M, Sainaghi PP, Stecco A, Mortara F, Sprenger T, Goadsby PJ
Headache 2014 Jul-Aug;54(7):1211-6. Epub 2014 May 20 doi: 10.1111/head.12383. [Epub ahead of print] PMID: 24842523
Toldo I, Tangari M, Mardari R, Perissinotto E, Sartori S, Gatta M, Calderone M, Battistella PA
Headache 2014 May;54(5):899-908. Epub 2014 Apr 25 doi: 10.1111/head.12341. [Epub ahead of print] PMID: 24766291
Gini G, Pozzoli T, Lenzi M, Vieno A
Headache 2014 Jun;54(6):976-86. Epub 2014 Apr 2 doi: 10.1111/head.12344. [Epub ahead of print] PMID: 24697284

Therapy

Martin VT, Neilson D
Headache 2014 Sep;54(8):1403-11. Epub 2014 Jun 23 doi: 10.1111/head.12417. [Epub ahead of print] PMID: 24958300
Viana M, Sainaghi PP, Stecco A, Mortara F, Sprenger T, Goadsby PJ
Headache 2014 Jul-Aug;54(7):1211-6. Epub 2014 May 20 doi: 10.1111/head.12383. [Epub ahead of print] PMID: 24842523
Gini G, Pozzoli T, Lenzi M, Vieno A
Headache 2014 Jun;54(6):976-86. Epub 2014 Apr 2 doi: 10.1111/head.12344. [Epub ahead of print] PMID: 24697284
Hollingworth M, Young TM
Headache 2014 May;54(5):916-9. Epub 2013 Nov 21 doi: 10.1111/head.12270. [Epub ahead of print] PMID: 24261314
Loder E, Weizenbaum E, Frishberg B, Silberstein S; American Headache Society Choosing Wisely Task Force
Headache 2013 Nov-Dec;53(10):1651-9. Epub 2013 Oct 29 doi: 10.1111/head.12233. [Epub ahead of print] PMID: 24266337

Prognosis

Toldo I, Tangari M, Mardari R, Perissinotto E, Sartori S, Gatta M, Calderone M, Battistella PA
Headache 2014 May;54(5):899-908. Epub 2014 Apr 25 doi: 10.1111/head.12341. [Epub ahead of print] PMID: 24766291
Chai NC, Scher AI, Moghekar A, Bond DS, Peterlin BL
Headache 2014 Feb;54(2):219-34. doi: 10.1111/head.12296. PMID: 24512574Free PMC Article
Houle TT, Turner DP, Houle TA, Smitherman TA, Martin V, Penzien DB, Lipton RB
Headache 2013 Jun;53(6):908-19. doi: 10.1111/head.12126. PMID: 23721238
Ravid S, Shahar E, Schiff A, Gordon S
Headache 2013 Jun;53(6):954-61. Epub 2013 Apr 10 doi: 10.1111/head.12088. [Epub ahead of print] PMID: 23574609
Heyer GL, Fedak EM, LeGros AL
Headache 2013 Jun;53(6):947-53. Epub 2013 Apr 10 doi: 10.1111/head.12103. [Epub ahead of print] PMID: 23574111

Clinical prediction guides

Martin VT, Neilson D
Headache 2014 Sep;54(8):1403-11. Epub 2014 Jun 23 doi: 10.1111/head.12417. [Epub ahead of print] PMID: 24958300
Toldo I, Tangari M, Mardari R, Perissinotto E, Sartori S, Gatta M, Calderone M, Battistella PA
Headache 2014 May;54(5):899-908. Epub 2014 Apr 25 doi: 10.1111/head.12341. [Epub ahead of print] PMID: 24766291
Gini G, Pozzoli T, Lenzi M, Vieno A
Headache 2014 Jun;54(6):976-86. Epub 2014 Apr 2 doi: 10.1111/head.12344. [Epub ahead of print] PMID: 24697284
Ruscheweyh R, Müller M, Blum B, Straube A
Headache 2014 May;54(5):861-71. Epub 2013 Aug 23 doi: 10.1111/head.12195. [Epub ahead of print] PMID: 23980919
Buse DC, Loder EW, Gorman JA, Stewart WF, Reed ML, Fanning KM, Serrano D, Lipton RB
Headache 2013 Sep;53(8):1278-99. Epub 2013 Jun 28 doi: 10.1111/head.12150. [Epub ahead of print] PMID: 23808666

Recent systematic reviews

Lal D, Rounds A, Dodick DW
Laryngoscope 2015 Feb;125(2):303-10. Epub 2014 Sep 12 doi: 10.1002/lary.24926. [Epub ahead of print] PMID: 25216102
Ramsey RR, Ryan JL, Hershey AD, Powers SW, Aylward BS, Hommel KA
Headache 2014 May;54(5):795-816. Epub 2014 Apr 17 doi: 10.1111/head.12353. [Epub ahead of print] PMID: 24750017
Gini G, Pozzoli T, Lenzi M, Vieno A
Headache 2014 Jun;54(6):976-86. Epub 2014 Apr 2 doi: 10.1111/head.12344. [Epub ahead of print] PMID: 24697284
Chai NC, Scher AI, Moghekar A, Bond DS, Peterlin BL
Headache 2014 Feb;54(2):219-34. doi: 10.1111/head.12296. PMID: 24512574Free PMC Article
Baillie LE, Gabriele JM, Penzien DB
Headache 2014 Jan;54(1):40-53. Epub 2013 Aug 28 doi: 10.1111/head.12204. [Epub ahead of print] PMID: 23992549

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