RESUMO
This study presents the clinical findings on seven children from Malta (population 385,000). All of them had early motor delay and a significant degree of cognitive impairment. Diurnal variation of the motor impairments was clear in six out of seven of the subjects and oculogyric crises occurred from an early stage also in six out of the seven. Five out of seven had clear evidence of dystonia but the early picture was dominated by hypotonia in five. Two had early Parkinsonian tremor and chorea was seen in four, although in two this was attributable to the use of L-dopa. Three had early bulbar involvement. In all, although minor motor problems persisted, the response to L-dopa was dramatic and there was a need to balance improvement in dystonia against aggravation of chorea. The majority were not able to walk until they were treated. Increased doses of L-dopa were required in hot weather, to which they were sensitive. Despite a good response of improved motor ability and abolition of oculogyric crises, there was no obvious change in cognitive function with learning remaining in the moderate impairment range. This report widens the phenotype of dopa-responsive motor disorders and the range of young children with primary motor delay (cerebral palsy) who need a clinical trial of L-dopa. All of the subjects had the same novel mutation in the tetrahydrobiopterin pathway involving sepiapterin reductase, and no abnormality in the gene encoding guanosine triphosphate cyclohydrolase 1. Clinically and molecularly the condition shows autosomal recessive inheritance.
Assuntos
Oxirredutases do Álcool/deficiência , Transtornos Cognitivos/enzimologia , Deficiências do Desenvolvimento/enzimologia , Atividade Motora/fisiologia , Adolescente , Paralisia Cerebral/tratamento farmacológico , Paralisia Cerebral/enzimologia , Paralisia Cerebral/fisiopatologia , Criança , Pré-Escolar , Ritmo Circadiano/fisiologia , Transtornos Cognitivos/fisiopatologia , Deficiências do Desenvolvimento/tratamento farmacológico , Deficiências do Desenvolvimento/fisiopatologia , Dopaminérgicos/uso terapêutico , Discinesias/tratamento farmacológico , Discinesias/enzimologia , Discinesias/fisiopatologia , Feminino , Genótipo , Humanos , Levodopa/uso terapêutico , Masculino , Transtornos dos Movimentos/tratamento farmacológico , Transtornos dos Movimentos/enzimologia , Transtornos dos Movimentos/fisiopatologiaRESUMO
A male infant is described of VACTERL with hydrocephalus where a female first cousin of this child had isolated oesophageal atresia with tracheo-oesophageal fistula. Possibly modes of inheritance are discussed.
Assuntos
Anormalidades Múltiplas/genética , Saúde da Família , Hidrocefalia/genética , Fístula Traqueoesofágica/genética , Feminino , Humanos , Recém-Nascido , Masculino , Fístula Traqueoesofágica/congênitoRESUMO
Killian-Pallister syndrome is a rare dysmorphic condition characterized by specific clinical manifestations and tetrasomy 12p. Although the association of this condition with congenital heart disease has been previously documented, no cases have been reported in association with Fallot's tetralogy. We report one such case.