Berardinelli-Seip syndrome in a 6-year-old boy.
A 6-year-old boy presented with abnormal habitus since birth, delayed language development, history of frequent falls since 9 months, and fever since 1 week. He was found to have hyperandrogenic features, generalized paucity of fat, generalized muscular overdevelopment, and brownish pigmentation over the flexural creases. Skin biopsy demonstrated features suggestive of acanthosis nigricans with an absence of subcutaneous tissue. After further investigation, a diagnosis of Berardinelli-Seip syndrome with bilateral pneumonia and generalized tonic clonic seizures was made. Clinical features, histopathology, differential diagnosis, and prognosis of this rare disorder have been discussed.
Babu
Priya
P
Department of Dermatology, St. John's Medical College Hospital, Bangalore, India. priyabuzz@hotmail.com
Sharma
Rakesh
R
Jayaseelan
Elizabeth
E
Appachu
Divya
D
D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D002648:Child; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014635:Valproic Acid / Q000627:therapeutic use
D000900:Anti-Bacterial Agents; D014635:Valproic Acid