Category: Clinical Sciences/Health Conditions
Case Diagnosis: Early distal muscle contractures, brachycephaly, torticollis and muted primitive reflexes in the setting of lamellar ichthyosis
Patient is a 2-month-old male infant born at 35 weeks gestation due to premature rupture of membranes to parents who are first cousins with a perinatal course complicated by gestational diabetes and postnatal course complicated by sepsis due to diminished skin integrity. Patient was referred to rehab for concern of early distal muscle contractures in the bilateral hands and feet. Physical exam was notable for aforementioned symptoms in addition to left torticollis, asymmetrical brachycephaly, nail dystrophy, large plate-like scales covering the body and thickening of the skin of palms and feet. Primitive reflexes such as Babinski, palmar and plantar grasp were muted.