A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature.
Pachygyria is a disorder of neuronal migration. We report an Indian family with four siblings with developmental delay, infrequent seizures, normal head size and mild to moderate mental retardation. Two of them had bilaterally symmetrical frontotemporal pachygyria. Dysmorphism and neurological signs were absent in the affected subjects. Affected male and female siblings with normal parents suggests autosomal recessive mode of inheritance. We believe these cases represent a new autosomal recessive disorder of neuronal migration. Other similar cases of lissencephaly are reviewed.
Phadke
Shubha R
SR
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow - 226 014, India. shubha@sgpgi.ac.in
Girisha
K M
KM
Phadke
Rajendra V
RV
D005192:Family Health; D005260:Female; D005625:Frontal Lobe / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009421:Nervous System Malformations / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D013702:Temporal Lobe / Q000002:abnormalities*