Trichothiodystrophy in a Child with Occult Learning Disorder
A 13-month-old girl presented with hair fragility and hair loss since age of 3 months. The mother had an uncomplicated antenatal history with first trimester vaginal bleeding. She was born at term, of non-consanguineous parents. At birth, she was encased in a collodion membrane, which was shed after 2 weeks. There was no photosensitivity and sweating was normal. An initial impression of self-healing collodion baby was made.\nPhysical examination revealed a prematurely aged appearance, frontal bossing [], sparse scalp hair [], knotted area on right scalp, absent eyebrows, brittle finger and toe nails with onychoschizia [], and normal sweating. The skin showed mild xerosis with eczema on the trunk.\nLight microscopy of haircuts showed trichorrhexis nodosa, trichoschisis []. On polarized microscopy, the hair shafts exhibited light and dark banding in a tiger-tail pattern []. Karyotype was 46XX. Full blood count, electrolytes, renal, liver function, serum immunoglobulin, and lymphocyte subsets were normal.\n2D echocardiogram revealed a moderate atrial septal defect, mild pulmonary valve stenosis, and tricuspid valve regurgitation. Ultrasound of the head was performed to investigate macrocephaly. This showed asymmetry of the lateral ventricles with left frontal horn dilatation. She was found to have global developmental delay, particularly in the gross motor skills. She started rolling on her stomach at 8 months, and by 14 months, she was not crawling, showed poor dynamic sitting balance and oro-motor delay with poor chewing and feeding skills.\nThe clinical features and hair microscopy findings were consistent with a diagnosis of TTD. The patient was followed up closely with dermatologists, cardiologists, and neurologists. She received physiotherapy for motor skill improvement, and was enrolled in “Rainbow Centre,” a school with special facilities catering to children with learning disability.