Objectives To report the association of acrocephaly, cherry red spots, squint, seizures and long spindle fingers which has not been reported before.
Methods A 10 month old girl with generalized tonic clonic convulsions despite treatment with sodium valproate, and two of her siblings, a girl and boy who were similar in appearance to this girl, died from recurrent seizures that didn’t respond to sodium valproate during the first year of life. Seizure was completely controlled with carbamazepine. The aim of this paper is to report a new clinical association.
Results The girl was born at term with average weight by normal vaginal delivery. The mother did not report taking any drugs during pregnancy. The girl was acrocephalactic with flat occiput and had epicanthic fold and bilateral mild convergent squint. At the age of 10 months she had no visible teeth. Her fingers were long and spindly in shape. All of her growth parameters were just below the third centiles. Fundoscopy examination showed bilateral macular cherry red spots. Cetavlon test for mucopolysachridosis was negative. Serum and urine chromatography showed no abnormal amino acids.
Conclusion A new clinical association is reported.
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