Pseudobulbar Affect in Survivors of Extreme Prematurity With Cerebellar Injury: Support for the Cerebellar Link in Pathological Laughter and Crying
Publication date: Available online 2 April 2017 Source:Seminars in Pediatric Neurology Author(s): John B. Bodensteiner Pseudo-bulbar affect (PBA), ie. pathological laughter and crying is being increasingly recognized in adults and is seen in association with a number of diseases like Parkinson disease, dementia, traumatic encephalopathy and others but has not previously been described in children with cerebral palsy CP. The condition (PBA) may be due to lesions in (or degeneration of) the cerebro-ponto-cerebellar pathways. Here we report two children with CP who have structural cerebellar injury as a result of their being born extremely premature who have pathological crying and probably laughter.
Publication date: Available online 1 April 2017 Source:Seminars in Pediatric Neurology Author(s): Eunice K Chan, Andrew J Kornberg Pauci- or asymptomatic but persistently elevated serum creatine kinase is not an uncommon pediatric neurology referral question. The challenge is in promptly identifying etiologies with specific treatments, even if they are rare. The presenting features for a child or adolescent with juvenile-onset Pompe disease (JOPD) can be non-specific and heterogeneous. Clinical manifestations can appear at any age after 2 years old and before adulthood, with insidious onset of symptoms related to slowly progressive skeletal or respiratory muscle weakness. This reported case highlights the importance of screening for JOPD in children with “hyper-CK-emia”. Dried blood spot measuring acid α-glucosidase (GAA) enzyme activity is reliable, rapid, non-invasive and inexpensive, allowing early diagnosis. Diagnosis of JOPD is important as enzyme replacement therapy with alglucosidase alfa, an intravenous recombinant GAA, is available and early treatment improves muscle function, quality of life and long term survival.
Infantile-Onset Myelin Protein Zero–Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia
Publication date: Available online 1 April 2017 Source:Seminars in Pediatric Neurology Author(s): Eppie M. Yiu, Jithangi Wanigasinghe, Mark T. Mackay, Michael Gonzales, Garth A. Nicholson, Monique M. Ryan We describe an infant with an early-onset demyelinating neuropathy who presented with an upper extremity monoplegia and progressive asymmetric weakness. Neurophysiologic testing revealed a generalized severe neuropathy with marked slowing of nerve conduction. The disproportionate severity and asymmetry of upper extremity involvement at presentation was atypical of inherited neuropathies, and an initial diagnosis of chronic inflammatory demyelinating polyneuropathy was considered. Nerve biopsy showed severe depletion of large myelinated fibers without inflammatory cells, and focally folded myelin sheaths were seen on electron microscopy. Genetic testing revealed a de novo heterozygous mutation in the myelin protein zero gene.
Publication date: Available online 26 December 2016 Source:Seminars in Pediatric Neurology Author(s): Karen S. Carvalho, Tal Grunwald, Francesco De Luca The Endocrine system is a complex group of organs and glands that relates to multiple other organs and systems in the body with the ultimate goal of maintaining homeostasis. This complex network functions through hormones excreted by several glands and released in the blood, ultimately targeting different body tissues and modulating their function. Any primary disorders affecting the endocrine glands and altering the amount of hormones synthesized and released will lead to disruption in the functions of multiple organs. The central nervous system of a developing child is particularly sensitive to endocrine disorders. A variety of neurological manifestations have been described as features of several endocrine diseases in childhood. Knowledge of these manifestations may contribute to an early diagnosis of an endocrine disorder, especially when more typical features of that disorder have not manifested yet. In this review, we will discuss specific neurologic manifestations found in various endocrine disorders in children.