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Acute neuronopathic Gaucher's disease

MedGen UID:
78652
Concept ID:
C0268250
Disease or Syndrome
Synonyms: Acute neuronopathic Gaucher''s disease; Gaucher disease type 2; Gaucher Disease Type 2 (Acute); Gaucher disease, acute neuronopathic type; Gaucher disease, infantile cerebral; GAUCHER DISEASE, TYPE II; GD 2; GD II
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Glucocerebrosidase deficiency type II (12246008); Acute neuronopathic Gaucher disease (12246008); Infantile Gaucher disease (12246008); Cerebral acute Gaucher disease (12246008); Acute neuronopathic Gaucher's disease (12246008); Infantile Gaucher's disease (12246008); Gaucher's disease, type II (12246008); Acute cerebral Gaucher's disease (12246008); Glucosylceramidase deficiency, acute type (12246008); Infantile cerebral Gaucher's disease (12246008)
 
Gene: GBA
Cytogenetic location: 1q22
OMIM®: 230900
Orphanet: ORPHA77260

Disease characteristics

Excerpted from the GeneReview: Gaucher Disease
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Gregory M Pastores  |  Derralynn A Hughes   view full author information

Additional descriptions

From OMIM
Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).  http://www.omim.org/entry/230900
From GHR
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).  http://ghr.nlm.nih.gov/condition/gaucher-disease

Clinical features

Failure to thrive
MedGen UID:
776583
Concept ID:
C2364119
Finding
Weight loss
MedGen UID:
504965
Concept ID:
CN001653
Finding
Reduction inexisting body weight.
Trismus
MedGen UID:
504393
Concept ID:
CN000204
Finding
Limitation in the ability to open the mouth.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Ophthalmoparesis
MedGen UID:
463310
Concept ID:
C3151960
Finding
Esotropia
MedGen UID:
504499
Concept ID:
CN000530
Finding
A form of strabismus with one or both eyes turned inward ('crossed').
Oculomotor apraxia
MedGen UID:
504541
Concept ID:
CN000618
Finding
Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Progressive neurologic deterioration
MedGen UID:
381506
Concept ID:
C1854838
Finding
Bulbar signs
MedGen UID:
347246
Concept ID:
C1856507
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Oculomotor apraxia
MedGen UID:
504541
Concept ID:
CN000618
Finding
Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebral atrophy
MedGen UID:
505074
Concept ID:
CN001862
Finding
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Rigidity
MedGen UID:
505075
Concept ID:
CN001866
Finding
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Trismus
MedGen UID:
504393
Concept ID:
CN000204
Finding
Limitation in the ability to open the mouth.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Protuberant abdomen
MedGen UID:
336535
Concept ID:
C1849208
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Sudden cardiac death
MedGen UID:
369872
Concept ID:
C1968862
Finding
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen.
Anemia
MedGen UID:
56401
Concept ID:
C0162119
Finding
A laboratory test result which indicates decreased levels of hemoglobin in a biological specimen.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
A disorder characterized by cessation of breathing.
Respiratory insufficiency
MedGen UID:
155440
Concept ID:
C0748358
Finding
Abnormal pattern of respiration
MedGen UID:
332433
Concept ID:
C1837388
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Recurrent aspiration pneumonia
MedGen UID:
505102
Concept ID:
CN001901
Finding
Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

Recent clinical studies

Prognosis

Church HJ, Cooper A, Stewart F, Thornton CM, Wraith JE
Eur J Hum Genet 2004 Nov;12(11):975-8. doi: 10.1038/sj.ejhg.5201251. PMID: 15292921
Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E
Pediatr Res 1998 May;43(5):571-8. doi: 10.1203/00006450-199805000-00003. PMID: 9585001

Clinical prediction guides

Church HJ, Cooper A, Stewart F, Thornton CM, Wraith JE
Eur J Hum Genet 2004 Nov;12(11):975-8. doi: 10.1038/sj.ejhg.5201251. PMID: 15292921
Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E
Pediatr Res 1998 May;43(5):571-8. doi: 10.1203/00006450-199805000-00003. PMID: 9585001
Silverstein E, Friedland J, Vuletin JC
Am J Clin Pathol 1978 Apr;69(4):467-71. PMID: 206129

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