A case report of neonatal PURA syndrome

Case presentation: G.D.V.S, a male neonate, was admitted into the neonatal intensive care unit due to respiratory insufficiency. On his sixth day of life, the patient presented with a series of tonic movements and spasm in upper and inferior limbs, followed by an approximate five-minute duration, apnea and central cyanosis. He had a term and complication-free pregnancy. On admission, could be noted global hypotonia, difficulties for nourishing, hyperreflexia, facies with cleft palate and micrognathia. He later developed an excessive hyper startle responsiveness, oculogyric crises and persistent dyskinesia. Electroencephalography has no spikes. Cerebral magnetic resonance imaging visualizes a diffuse cerebral volumetric reduction and subdural hydroma. Genetic test shows deletion of 152Kb, on heterozygous, with a pathogenic variation involving the PURA gene. During hospitalization, movements had a positive response to the use of benzodiazepines (midazolam) and was discharged after treatment of several complications (infections, chyloperitoneum, panhypopituitarism), in addition to tracheostomy, gastrostomy and continuous use of oxygen.

Discussion: PURA syndrome is caused by the mutation of the purine rich binding element protein α (PURα) gene in chromosome 5q31.2–q31.3. Neonatal patients exhibited hypotonia, feeding difficulties, apnea or primary hypoventilation, intrauterine excessive hiccupping and drowsiness. The pediatric patients demonstrated moderate to severe mental retardation, epilepsy, progressive hip dysplasia, scoliosis, dysphagia, salivation and constipation. Respiratory insufficiency, including central and obstructive sleep apnea and recurrent pulmonary aspiration, were frequently observed. Early-onset feeding difficulties with moderate dysphagia and evidence of tracheal aspiration often needed nasogastric or gastric-tube feeding. Moderate to severe neurodevelopmental delays might occur, with some developing later epilepsy and nonepileptic hyperkinetic movements (dystonia, dyskinesia, and eye movement abnormalities). Most patients showed a decreased volume of white matter, a slight enlargement of lateral ventricles, and subarachnoid cysts in cerebral magnetic resonance.

Final comments: In newborns with severe hypotonia associated with respiratory abnormalities or movement disorders, further evaluation is needed since early diagnosis and intervention provides a better prognosis and allows genetic counseling.

 

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No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023