Natural history of non-lethal Raine syndrome during childhood.

BACKGROUND: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. RS is usually lethal during the neonatal period due to severe respiratory distress. However, there exists a non-lethal RS form, the phenotype of which is extremely heterogeneous. There is paucity of data about clinical course and life expectancy of these patients. RESULTS: This is the first description of follow-up features of non-lethal RS patients. Moreover, we present three unpublished cases. There are five Asian and two Arab patients. All were born to consanguineous parents. The most common neonatal comorbidity was respiratory distress secondary to choanal atresia. A variable degree of neurodevelopmental delay was seen in the majority of our cases and seizures and hearing or vision involvement were also frequent. Neurological and orthopedic issues were the most frequent complications seen at follow-up in our group. Persistent hypophosphatemic rickets was the most striking endocrinological manifestation, which was scarcely responsive to therapy with phosphate salts and alfacalcidol. Life expectancy of our patients goes beyond childhood, with the oldest of those described being 18 years old at present. CONCLUSIONS: Manifestations of RS in those surviving the neonatal period are being increasingly recognized. Our study supports previous findings and provides clinical and biochemical observations and data from longer follow up. Finally, we propose multidisciplinary follow up for patients with non-lethal RS.

Full outline of unresponsiveness score versus Glasgow Coma Scale in children with nontraumatic impairment of consciousness.

The study was designed to compare the Full Outline of UnResponsiveness score with Glasgow Coma Scale as a predictor of mortality and poor functional outcome at hospital discharge in children with nontraumatic impairment of consciousness. Seventy children aged 5 to 18 years admitted with impaired consciousness were enrolled. The scores were applied by the Pediatric Neurology fellow within 2 hours of admission. The primary outcome studied was in-hospital mortality. Receiver operating characteristic curves were used to compare the 2 scores. The area under the curves for Glasgow Coma Scale and Full Outline of UnResponsiveness scores were 0.916 and 0.940, respectively. However, the difference between the areas under curve for the 2 scores was not statistically significant (0.023; 95% confidence interval: -0.0115 to 0.058). Our data indicate that both the scores are good predictors for in-hospital mortality and functional outcome. However, no significant difference was observed between the ability of the 2 scores to predict the outcomes.

Approach to the child with coma.

Coma and other states of impaired consciousness represent a medical emergency. The potential causes are numerous, and the critical window for diagnosis and effective intervention is often short. The common causes of non-traumatic coma include central nervous system infections, metabolic encephalopathy (hepatic, uremic, diabetic ketoacidosis etc.), intracranial bleed, stroke and status epilepticus. The basic principles of management include 1) Rapid assessment and stabilization, 2) Focussed clinical evaluation to assess depth of coma, localization of lesion in the central nervous system and possible clues to etiology, and 3) Treatment including general and specific measures. Commonly associated problems such as raised intracranial pressure and seizures must be recognized and managed to prevent secondary neurologic injury.