Severe asymptomatic maternal antepartum hyponatremia leading to neonatal seizures: prevention is better than cure.

BACKGROUND: Pre-delivery maternal electrolyte derangements may reflect themselves in the newborn, since placental homeostasis determines electrolyte equilibrium between mother and fetus. CASE PRESENTATION: A term newborn, transferred to our Neonatal Intensive Care Unit 1 h after birth for an apnoea episode, presented with initially left-sided, and subsequently generalized tonic-clonic seizures due to severe hyponatremia (119 mmol/L). Seizures rapidly ceased after electrolyte correction plus a phenobarbital bolus. Deep hyponatremia was also detected in the mother (123 mmol/L). CONCLUSIONS: As placental homeostasis determines electrolytes equilibrium between mother and fetus, obstetrics and neonatologists should be aware that any maternal dyselectrolytemia will reflect itself in the newborn; hence, it is fundamental to detect possible maternal electrolyte imbalances before delivery, in order to be prepared to timely correction of electrolyte derangements in the newborn.

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

BACKGROUND: Hunter disease is a rare X-linked mucopolysaccharidosis. Despite frequent neurological involvement, characterizing the severe phenotype, neuroimaging studies are scarce. OBJECTIVES: To determine frequency and severity of neuroradiological mucopolysaccharidosis-related features; to correlate them with clinical phenotype; to evaluate their natural evolution and the impact of intravenous enzymatic replacement therapy (ERT). METHODS: Sixty nine brain MRI examinations of 36 Italian patients (mean-age 10.4 years; age-range 2.2-30.8; severe phenotype in 22 patients) were evaluated. Twenty patients had multiple MRIs (median follow-up 3.1 years, range 1-16.9): among them 15 had MRIs before and after ERT, six had repeated MRIs without being on ERT and five while on ERT. Perivascular, subarachnoid and ventricle space enlargement, white matter abnormality (WMA) burden, pituitary sella/skull/posterior fossa abnormalities, periodontoid thickening, spinal stenosis, dens hypoplasia, myelopathy, vertebral and intervertebral disc abnormalities were graded by means of dedicated scales. RESULTS: Perivascular spaces enlargement (89%), WMAs (97%), subarachnoid space enlargement (83%), IIIrd-ventricle dilatation (100%), pituitary sella abnormalities (80%), cranial hyperostosis (19%), craniosynostosis (19%), enlarged cisterna magna (39%), dens hypoplasia (66%), periodontoid thickening (94%), spinal stenosis (46%), platyspondylia (84%) and disc abnormalities (79%) were frequently detected. WMAs, IIIrd-ventricle dilatation and hyperostosis correlated with the severe phenotype (p < 0.05). Subarachnoid spaces and ventricle enlargement, WMAs and spinal stenosis progressed despite ERT, while other MR features showed minimal or no changes. CONCLUSIONS: The spectrum of brain and spine MRI abnormalities in Hunter disease is extremely wide and requires a thorough evaluation. WMAs, atrophy/communicating hydrocephalus and spinal stenosis progress over time and might represent possible disease severity markers for new treatment efficacy assessment.