Pediatric neurology最新文献

Background: Thick fetal corpus callosum (CC) is a rare finding and its significance in isolation is not clear. In this retrospective study, we aim to gain insight into the microarchitecture of CC in a cohort of fetuses with thick and short CC (isolated or associated with mild extra-/intracranial abnormalities) as seen on ultrasound (US), by using prenatal magnetic resonance (MR) diffusion tensor imaging (DTI) with fiber tractography, thereby allowing better characterization for postnatal prognosis.

Methods: Twelve fetuses met the inclusion criteria on US. The fetuses were further divided into group 1 (eight of twelve) with mild intra-/extracranial abnormalities or apparently isolated and group 2 (four of 12) with callosal lipoma (CL) on US. In all fetuses, both conventional MR imaging and DTI with tractography were done on 3T MRI.

Results: DTI fiber tractography showed an aberrant midline longitudinal supracallosal bundle (ASB) in all eight fetuses in group 1. Three of four fetuses in group 2 showed normal callosal architecture, and one showed an abnormal sigmoid bundle suggestive of partial agenesis of CC.

Conclusions: We have for the first time demonstrated an ASB on MR DTI with tractography in eight of 12 fetuses with thick and short CC (isolated or mild associated intra-/extracranial abnormalities). Postnatally, ASB is reported to be associated with abnormal neurodevelopmental outcomes even in isolation and hence is important in counseling and prognosis. In fetuses with CLs, DTI would demonstrate normal or abnormal callosal architecture which is obscured by echogenicity and help in counseling.

Wernicke encephalopathy is a well-described neurological complication of thiamine deficiency that is classically characterized by a triad of mental confusion, ophthalmoplegia, and gait ataxia. Although most commonly linked to alcoholism and thiamine deficiency in adults, it can present in pediatric patients. Wernicke encephalopathy presenting as dysnatremias is not well described. This report describes a developmentally delayed 21-month-old male with restrictive dietary habits who eventually developed focal neurological deficits. He was found to be hyponatremic consistent with syndrome of inappropriate antidiuretic hormone (SIADH). Additionally, he had brain magnetic resonance imaging findings consistent with Wernicke encephalopathy. He improved with thiamine administration and correction of his hyponatremia. His case highlights the importance of broadening the differential for altered mental status in the setting of SIADH. Similarly, his case provides an example for why primary care pediatricians should remain vigilant in caring for patients with developmental delay and restricted diets, as even rare complications are possible.

Congenital bilateral perisylvian syndrome (CBPS) is a rare neuronal migration disorder of cortical development characterized by polymicrogyria on magnetic resonance imaging. Features include pseudobulbar palsy, language and speech difficulties, epilepsy, and cognitive deficits. We discuss the management of the case of a five-year-old male with classical features of CBPS.

Background: Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare neurological disorder characterized by abnormal brain size, vascular malformations, and body overgrowth. MCAP is caused by somatic mosaicism of PIK3CA, a crucial gene in regulation of cell growth and survival, and is one of the disorders in the PIK3CA-related overgrowth spectrum.

Methods: We present a unique clinical report of a male infant diagnosed with MCAP from prenatal stages to age 12 months. Prenatal imaging unveiled ventricular asymmetry, later confirmed postnatally as megalencephaly. Genetic analysis identified a PIK3CA mutation. The patient underwent early interventions, including ventriculoperitoneal shunt placement and posterior fossa decompression.

Results: Despite early interventions, the patient developed progressive macrocrania, hydrocephalus, and significant neurodevelopmental delay. Multidisciplinary management and continuous neuroimaging were crucial in addressing complications associated with the disorder.

Conclusions: This case underscores the critical need for multidisciplinary care and continual neuroimaging surveillance to effectively navigate the progressive complications associated with PIK3CA-related overgrowth spectrum. The diagnostic hurdles and management challenges intrinsic to the disorder's natural course are elucidated. Although current treatments manage symptoms, emerging therapies hold promise for improving patient outcomes.

Sacral agenesis (SA) is a rare congenital neurological disorder characterized by the incomplete development of the sacral spine. This work summarizes the scientific literature on SA, including the following sections: pathogenesis, epidemiology, risk factors, genetics, clinical manifestations, radiological classification, diagnosis, and management. The aim of this work is to provide the most up-to-date and comprehensive medical narrative literature review for this rare congenital disease. This narrative review used PubMed, MEDLINE, Science Direct, and Embase databases. Between December 2022 and September 2023, the following terms were used for the inclusion of original articles: "rare disease," "caudal regression," "diabetic embryopathy," and "sacral agenesis.? The International Sacral Agenesis/Caudal Regression Association participated in reviewing this manuscript and drafting a paragraph on behalf of those living with this condition. The clinical manifestations of SA are heterogeneous. The most prevalent manifestations involve peripheral neurological, motor, urinary, and digestive issues. The prognosis depends on the severity and associated abnormalities. Patients usually exhibit normal mental function but require a multidisciplinary evaluation and largely supportive treatment that enables them to live successful lives. More awareness and research are needed.