Neurological Manifestations of Achondroplasia.

PURPOSE OF REVIEW: This review is to delineate the neurological complications seen in patients with achondroplasia. RECENT FINDINGS: As the understanding of the genetics of this disorder has advanced, the possibility of targets for intervention which might modify the development and management of the neurological complications of this disease may be identified. Achondroplasia is a hereditary short-limbed dwarfism which has been known for millennia. The genetic defect is a gain of function sequence variation in the fibroblast growth factor receptor 3 (FGFR3). This gene normally regulates (inhibits) bone growth thus the gain of function results in abnormal or excessive inhibition of growth. The resulting bone is subject to distortion and the result is that bone impinges on nervous tissue, most commonly at the foramen magnum, spinal canal, and nerve root outlet foramen. Awareness of the range of these complications will, hopefully, allow early and more effective intervention so as to ameliorate the nature and severity of the long-term effects of the neurological complications in patients with achondroplasia.

Pseudobulbar Affect in Survivors of Extreme Prematurity With Cerebellar Injury: Support for the Cerebellar Link in Pathologic Laughter and Crying.

Pseudobulbar affect, that is, pathologic 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. The condition pseudobulbar affect may be due to lesions in (or degeneration of) the cerebro-ponto-cerebellar pathways. Here we report 2 children with cerebral palsy who have structural cerebellar injury because of their being born extremely premature who have pathologic crying and probably laughter.

Pediatric Nerve Biopsy Diagnostic and Treatment Utility in Tertiary Care Referral.

BACKGROUND: Pediatric neuropathies are both unique and similar to their adult counterparts, with genetic varieties thought to be more common. The objective of this work was to assess the utility of nerve biopsy in children at a tertiary referral center in light of availability of current genetic testing. METHODS: We retrospectively reviewed the clinical, nerve biopsy, and genetic testing findings of 316 pediatric (age ≤18 years) patients. RESULTS: Median age at diagnosis was 9.8 years (4 days to 18 years). Nerve biopsy was nontargeted in 198 (182 whole sural, seven superficial peroneal, and nine other), targeted in 21 (14 fascicular sciatic and seven brachial plexus), and unknown in 97 cases. Prebiopsy localizations and diagnoses were diverse, most commonly with length-dependent localizations (n = 150). Median follow-up was 6 months (0 to 480 months). A distinctive histopathologic diagnosis was made in 106 cases (33%), including inflammatory or immune (n = 30), neoplastic (n = 19), hereditary (n = 41), vasculitis (n = 10), and other (n = 6). Nerve biopsy confirmed the suspected diagnosis in 91 (29%) individuals and changed or refined the initial diagnosis in 182 (58%). Treatment modifications as a result of biopsy occurred in 80 (25%) cases; 59 (19% of the entire cohort) with clinical improvements noted, most commonly by immunotherapy (n = 30). Low diagnostic yield occurred in "hypotonic infants" without nerve conduction abnormalities. Pain at the biopsy site beyond 1 month was rare (n = 3; 1%). Forty-four patients underwent genetic testing. Among demyelinating varieties, mutations were identified in five of 11 (46%) cases compared with only six of 33 (18%) cases of axonal varieties. CONCLUSION: Pediatric nerve biopsy provides diagnostic information that frequently alters treatment recommendations. Furthermore, it leads to clinical improvements, especially in inflammatory immune neuropathies. For suspected inherited varieties, genetic testing has the highest diagnostic yield in demyelinating phenotypes.

The beginnings of the Southern Child/Pediatric Neurology Society.

The founding and early development of the Southern Pediatric Neurology Society was in many ways parallel to that of the Child Neurology Society. The organization started out as the Southern Child Neurology Society but the name was changed at the time of incorporation so as to avoid confusion of identity and purpose with the larger Child Neurology Society. Although there are archives of early days and the later development of the Southern Pediatric Neurology Society, the details have never been set down in a narrative explaining the events that led to the development of the organization. In this paper, we try to produce a written record of the history of the founding and early development of the Southern Pediatric Neurology Society.

A 4-year-old Nigerian boy with cerebral palsy?

A four year old with a diagnosis of congenital infection leading to cerebral palsy is presented. The patient instead has a condition called Leukoencephalopathy with bilateral temporal lobe cysts which can be differentiated from congenital CMV by the clinical and MRI findings.