Stuve-Wiedemann syndrome with a novel mutation

Abstract

We describe a female infant born at term to consanguineous parents, with a suspicion of skeletal dysplasia in utero. At birth, she had short limbs, camptodactyly, dysphagia leading to nasogastric tube feeds, and skeletal survey demonstrating dysplasia of long bones and spine. During infancy, she also developed episodes of respiratory failure necessitating admission to intensive care, and periods of hyperhidrosis managed at home. A basic genetic screen did not reveal any abnormalities. Contact was made with the European Skeletal Dysplasia Network, and a provisional diagnosis of Stuve-Wiedemann syndrome was suggested based on this review. Specific genetic tests showed a previously unreported homozygous mutation of leukaemia inhibitory factor receptor gene, confirming the diagnosis. This is the first case with a novel mutation, reported from the UK. For paediatricians and neonatologists, the European Skeletal Dysplasia Network is a valuable resource to reach a specific diagnosis.

Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review

“…The third major concern since birth and during infancy are swallowing trouble (74%) which are probably consecutive to pharyngoesophageal dyskinesia due to an abnormal autonomic control [ 23 ]. Nasogastric tube feeding and/or gastrostomy are generally required during infancy to ensure proper feeding and prevent aspiration pneumonia [ 15 , 16 , 23 ]…”

Rhabdomyolysis in Stuve-Wiedemann syndrome

“…The results showed that the patient carried the mutation c.144_145dupGG, p. A49Gfs*6 in exon 3 of the LIFR gene homozygously. This mutation had already been described in his sister’s case report 5. This frameshift mutation either results in loss of function of the affected allele due to nonsense mediated decay of the mutant mRNA or in a truncated protein with aberrant or no function.…”

“…This infant of consanguineous parents was born at term, the mother had three previous miscarriages and two live born children including a daughter diagnosed with SWS 5. Antenatal scans in this pregnancy showed oligohydramnios, short long bones.…”

A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature

“…Many long-term survivors require physical therapy and braces, as well as osteotomies to reduce limb deformities and surgical stabilization of scoliosis ( 8 ). Although motor and growth delay are present, cognitive impairment is not a feature of SWS ( 3 , 4 ). As seen in our case, ocular manifestations are reported to become more prominent, with 45% experiencing corneal ulcers and 48% demonstrating a lack of corneal reflex in patients with SWS after 2 years of age ( 8 ).…”