A 10-year-old girl born with telangiectasias of the lip, trunk, extremities, palms, and soles was found to have an asymptomatic Chiari I malformation without syringomyelia on MRI, and is reported from Children’s Hospital, Alabama. Additional diagnoses in this patient included left hemihypertrophy, thoracic scoliosis, obsessive compulsive disorder, Tourette’s syndrome, and an absence seizure disorder. The Chiari I malformation showed 22 mm of tonsillar ectopia. [1]
COMMENT. Cutaneous manifestations associated with Chiari I malformation (CIM) are rare. The authors cite other reports including macrocephaly Cutis Marmorata Telangiectatica Congenita (M-CMTC), Leopard syndrome with CIM, blue rubber bleb nevus syndrome with CIM, acanthosis nigricans, neurofibromatosis type 1, and Waardenburg syndrome with congenital leukoderma.