[Case report of a boy with Prader-Willi syndrome and focal epilepsy].
An 11-old boy with Prader-Willi syndrome and partial epilepsy was reported. Muscular hypotonia in early infancy was extreme and developmental milestones were retarded, especially walk and speech. He achieved these landmarks within three years. The first seizure disorder was seen in the 9th year. The patient was characterized by hypotonic musculature, severe mental retardation, obesity (gynaecomasty, excess of fat on the thighs, the abdomen and the trunk), hypogonadism (a minute penis, hypoplastic scrotum and cryptorchidism). Apart from these characteristics, the patient presented some minor morphological anomalies (turicephalic skull, high-arched palate, abnormally shaped pinnae, clinodactily, defects on teeth enamel), and some skeleton and joint anomalies (small feet, kyphosis, lumbar lordosis, knock-knee, flat foot). Speech retardation, behaviour disturbance and inappropriate emotional reaction were noted. Karyotype was normal. Dermatoglyphic analysis showed some significant qualitative and quantitative characteristics. An abnormal glucose tolerance curve was obtained. Electroencephalogram showed an irritative paroxysmal discharge with primary focal activity in frontal-temporal cortical regions of the brain left hemisphere.
Vranjesević
D
D
Jović
N
N
Branković
S
S
D002648:Child; D004828:Epilepsies, Partial / Q000150:complications*; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000473:pathology
Slucaj decaka sa sindromom Prader-Willi i zarisnom epilepsijom.