LAUSR

Short clinical summary A 7-year-old boy born to non-consanguineous parents, with an unremarkable family history, presented with global developmental delay. Antenatal and perinatal periods were uneventful. He was born out of a full-term spontaneous vaginal delivery; birth weight was 2.9 kg (17th centile), length 48 cm (16th centile), and head circumference 36 cm (89th centile). Motor milestones were delayed with head control achieved at 8 months, sitting at 10 months, walking with support at 11 months, standing with support at 14 months and walking without support at 20 months of age. After achieving independent ambulation at around 20 months of age, he walked with some difficulty. He also had feeding difficulties. Social smile was attained at 3 months, babbling at 6 months and first meaningful words at 18 months. At 7 years, verbal speech was limited to a few words with slurring. There was development of progressive contractures involving both the upper and the lower limbs noticed at 2 years of age. Severe contractures resulted in loss of ambulation at around 5 years of age. He required assistance in maintenance of hygiene and dressing. There was no history of seizures, episodes of lethargy, or regression of milestones.