A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia.

[kabuki syndrome]

Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face , skeletal and dermatoglyphic anomalies , postnatal growth retardation and mental retardation . We report a case of Kabuki syndrome with unilateral perisylvian cortical dysplasia . This two -year old boy was referred to our hospital at 3 -months of age for his growth retardation and muscle hypotonia . Because of his peculiar face , brachydactyly V and fingertip pad , we diagnosed him as having Kabuki syndrome . His MRI revealed cortical dysplasia along the left sylvian fissure . However , neither epileptic seizures nor epileptiform discharges on electroencephalogram were observed . Cortical dysplasia is a relatively rare brain malformation among the central nervous system anomalies accompanying with this syndrome . We have to take into consideration the likely onset of epilepsy in this patient because it is one of the most frequent neurological consequences of cortical dysplasia .

Diseases
Validation

Diseases presenting "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated