Format

Send to

Choose Destination
BMC Neurol. 2016 Jan 12;16:3. doi: 10.1186/s12883-016-0526-2.

Friedreich Ataxia and nephrotic syndrome: a series of two patients.

Author information

1
Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA, 19104-4318, USA. julianna.shinnick@gmail.com.
2
Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA, 19104-4318, USA. isaacsc@email.chop.edu.
3
Department of Physical Therapy, Department of Rehabilitation, Children's Hospital of Philadelphia, King of Prussia Specialty Care and Surgery Center, 550 South Goddard Blvd, King of Prussia, PA, 19406, USA. vivaldi@email.chop.edu.
4
Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA, 19104-4318, USA. Schadt@email.chop.edu.
5
Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA, 19104-4318, USA. lynchd@mail.med.upenn.edu.
6
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. lynchd@mail.med.upenn.edu.

Abstract

BACKGROUND:

Friedreich Ataxia (FRDA) is a neurodegenerative disorder characterized by gait and balance abnormalities, sensory loss, weakness, loss of reflexes, and ataxia. Previously, two cases of FRDA and Nephrotic Syndrome (NS) have been reported. Here we report two additional individuals with NS and FRDA, providing further evidence for a possible connection between the two diseases and focusing on the neuromuscular responsiveness of one individual to corticosteroid treatment, an effect not previously described in FRDA.

CASE PRESENTATIONS:

We describe two patients with FRDA also presenting with NS. The first patient was diagnosed with FRDA at age 5 and NS at age 7 following the development of periorbital edema, abdominal swelling, problems with urination, and weight gain. The second patient was diagnosed with NS at age 2 after presenting with periorbital edema, lethargy, and abdominal swelling. He was diagnosed with FRDA at age 10. Nephrotic syndrome was confirmed by laboratory testing in both cases and both individuals were treated with corticosteroids.

CONCLUSIONS:

Nephrotic syndrome may occur in individuals with FRDA, but was not associated with myoclonic epilepsy in our patients as previously described. It is unlikely that this association is coincidental given the rarity of both conditions and the association of NS with mitochondrial disease in model systems, though coincidental coexistence is possible. One patient showed neurological improvement following steroid treatment. Although neurological improvement could be attributed to the treatment of NS, we also identified some degree of steroid responsiveness in a series of patients with FRDA but without NS.

PMID:
26755195
PMCID:
PMC4709941
DOI:
10.1186/s12883-016-0526-2
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center