One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome
Journal Title: Sultan Qaboos University Medical Journal - Year 2013, Vol 13, Issue 2
Abstract
Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difculties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Tree siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. Te disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.
Authors and Affiliations
Roshan Koul| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Adila Al-Kindy| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Renjith Mani| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Dilip Sankhla| Radiology & Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman, Amna Al-Futaisi| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman
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