Developing a New Set of ACGME Milestones for Child Neurology Residency.

Background: The Educational Milestones developed by the Accreditation Council for Graduate Medical Education (ACGME) are a construct used to evaluate the development of core competencies during residency and fellowship training. The milestones were developed to create a framework for professional development during graduate medical education. The first iteration of milestones for the child neurology residency was implemented in 2015.

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.

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.

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.

Neurologic manifestations of achondroplasia.

Achondroplasia is the best described and most common form of the congenital short-limbed dwarfing conditions. Achondroplasia is apparent at birth and has a birth prevalence of 1 in 20000-30000 live-born infants. Achondroplasia is inherited as an autosomal dominant condition, although 80% of cases occur sporadically as new events in their families.