ABSTRACT
Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by multiple osteochondromas. We describe a case of acute cervical spinal cord compression arising from an exostosis at the lamina of C7 and T1 in a 4-year-old Mexican-American boy with HME. His affected sibling also displayed spinal cord compression because of a bony exostosis. Acute cervical spinal cord compression resulting from osteochondroma is a serious complication of HME. (c) 2010 Wiley-Liss, Inc.
Subject(s)
Exostoses, Multiple Hereditary/diagnosis , Spine/abnormalities , Child, Preschool , Exostoses, Multiple Hereditary/diagnostic imaging , Female , Humans , Infant, Newborn , Magnetic Resonance Imaging , Male , Pregnancy , Spine/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.
Subject(s)
Carnitine/metabolism , Homocystinuria/diagnosis , Neonatal Screening , Puerperal Disorders/diagnosis , Adult , Carrier Proteins/genetics , Carrier Proteins/metabolism , Female , Homocystinuria/genetics , Homocystinuria/metabolism , Humans , Infant, Newborn , Oxidoreductases , Puerperal Disorders/genetics , Puerperal Disorders/metabolismABSTRACT
A 3-month-old boy with Costello syndrome (CS) developed respiratory distress and fatal arrhythmias. An autopsy showed cardiac hypertrophy, mild coarctation of the aorta, and pancreatic islet cell hyperplasia. To our knowledge, this is the first report of a pancreatic abnormality in CS. Islet cell hyperplasia has also been observed in leprechaunism, Beckwith-Wiedemann (BWS), and Simpson-Golabi-Behmel syndromes. The syndromes are thought to involve abnormal insulin or insulin-like growth factor (IGF) pathways. Clinical similarities among these disorders and CS, together with the finding of islet cell hyperplasia, suggest that they may be related.
