Three Siblings with Van der Knaap Disease
Megalencephalic leukoencephalopathy with subcortical cysts, also known as van der Knaap disease, is a rare autosomal recessive disease. The disease develops as a consequence of mutations in the genes MLC1 and MLC2. A three years and nine months old male patient was operated for right inguinal he...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2016-03-01
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| Series: | Haseki Tıp Bülteni |
| Subjects: | |
| Online Access: | http://www.hasekidergisi.com/article_10377/Three-Siblings-With-Van-Der-Knaap-Disease |
| Summary: | Megalencephalic leukoencephalopathy with subcortical cysts, also
known as van der Knaap disease, is a rare autosomal recessive
disease. The disease develops as a consequence of mutations in the
genes MLC1 and MLC2. A three years and nine months old male
patient was operated for right inguinal hernia. Physical examination
revealed macrocephalia, ataxia and mental retardation. Magnetic
resonance imaging of the brain demonstrated megalencephalic
leukoencephalopathy and subcortical cysts. These findings were
consistent with the diagnosis of van der Knaap disease. The patient
was born to consanguineous parents. Two siblings of the patient
(brother aged 23 years and sister aged 19 years), who showed
similar neurological features, underwent genetic investigation
and MLC1 gene mutation was detected. The presenceof this rare
disease was quite interesting. These cases point out that genetic
counseling is of importance in our country where consanguineous
marriage is common. |
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| ISSN: | 1302-0072 2147-2688 |