Leukodystrophy, Hypomyelinating, 13

Clinical Characteristics
Ocular Features: 

Several individuals in one family have been observed with optic atrophy, nystagmus and visual impairment.

Systemic Features: 

Head circumference is normal at birth but later in childhood falls behind in growth.  Neurodevelopment seems to plateau without regression.  Feeding difficulties may be present from birth and may require gastroscopy tube placement.  Motor skills are delayed and expressive language may never develop.  General irritability and increased muscle tone with hyperreflexia are usually present eventually resulting in joint contractures. 

EEGs , electromyography, and nerve conduction studies have been normal in 3 patients.  A brain MRI in one patient showed a leukodystrophic pattern in periventricular areas.  Variable cardiac malfunctions such as heart failure, LVH, and pericarditis were observed in several patients.

Sudden death following a short febrile illness has been reported to occur in three of the six affected children before the age of 15 years. 


Homozygous mutations in the C11ORF73 gene (11q14.2) are responsible for this disorder.  Three unrelated families of Ashkenazi Jewish descent have been reported.

Treatment Options: 

No effective treatment has been reported.

Article Title: 


Edvardson S, Kose S, Jalas C, Fattal-Valevski A, Watanabe A, Ogawa Y, Mamada H, Fedick AM, Ben-Shachar S, Treff NR, Shaag A, Bale S, Gartner J, Imamoto N, Elpeleg O. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. J Med Genet. 2016 Feb;53(2):132-7.

PubMedID: 26545878