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 difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three 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. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.
Highlights
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 difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death
Stuve-Weidemann syndrome (STWS) [MIM #601599], known as neonatal Schwartz-Jampel syndrome type 2 (SJS-2), is a severe neuromuscular disorder of prenatal onset characterised by congenital joint contractures, distinctive campomelic metaphyseal skeletal dysplasia, respiratory and feeding difficulties, dysautonomia with a tendency towards hyperthermia, and frequent death in infancy.[1]
Hypotonia is a common presentation in childhood, and STWS should be considered in the differential diagnosis.[2]
Summary
The couple’s third child, a female, was first seen 16 years ago at Sultan Qaboos University Hospital (SQUH), Oman. She was referred at 26 days of age with poor feeding, hypotonia, severe failure to thrive, intermittent fever, and recurrent infections. On examination, she had micrognathia, lowset ears, narrow and short palpebral fissures, long eyelashes, and short curved limbs. The basic blood work-up was normal including a septic work-up and a serum creatine kinase (S-CK) test. The nerve conduction study (NCS) and electromyography (EMG) were both normal. No definitive diagnosis was made and the child died at 3 months of age from a respiratory infection
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