ABSTRACT
We present a case of a live born female infant who presented in early life with a movement disorder, lack of developmental progress and neutropenia. Extensive neuro-metabolic investigation was non-diagnostic. Chromosome analysis of cultured lymphocyte cells showed an abnormal chromosome 16 with additional material noted in the proximal long arm. Additional fluorescence in situ hybridisation studies identified this additional material to represent a duplication of the long arm of chromosome 16 between 16q11.2 and 16q21. There was progressive decline and death by 10 months. Dystonia cortical blindness and neutropenia have not been a reported feature of trisomy 16 to date.
Subject(s)
Blindness, Cortical/genetics , Dystonia/genetics , Neutropenia/genetics , Trisomy/pathology , Trisomy/physiopathology , Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 16 , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Mosaicism , PhenotypeABSTRACT
We present a case of acute disseminated encephalomyelitis after mastoid surgery in an 11-year-old child. The aim of this paper is to increase awareness about a previously unreported and an unusual neurological complication of cholesteatoma and mastoid surgery.
Subject(s)
Encephalomyelitis, Acute Disseminated/etiology , Mastoiditis/surgery , Postoperative Complications/etiology , Child , Disease Progression , Encephalomyelitis, Acute Disseminated/drug therapy , Humans , Male , Treatment OutcomeABSTRACT
Two individuals with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1alpha subunit (PDHA1) presented during childhood with dystonia. The first patient, a male, presented at age 4 years with dystonia affecting the lower limbs, which responded to treatment with combined carbidopa and levodopa. The second patient, a female, was first investigated at age 6 years because of a dystonic gait disorder. In both patients, the main clue to the biochemical diagnosis was a raised concentration of lactate in the cerebrospinal fluid. PDH activity was significantly reduced in cultured fibroblasts in both cases. Dystonia is a previously unrecognized major manifestation of PDH deficiency and is of particular interest as the mutations in the PDHA1 gene in these patients have both been identified previously in individuals with typical presentations of the condition.