OBJECTIVES: To investigate hypoxia and sleep disordered breathing in infants with congenital heart disease. METHODS: Prospective study. In-hospital full polysomnography was performed on 14 infants with congenital heart disease, age 7 ±1 months, and in 7 normal infants, age 10 ±2 months. Congenital heart disease infants were classified as acyanotic (n=7) or cyanotic (n=7). RESULTS: Nutritional status, assessed by the Gomez classification and expressed as % weight for age, was 70 ±7, 59 ±11 and 94 ±16 in the acyanotic, cyanotic congenital heart disease and control infants, respectively (p<0.001). The respiratory disturbance index (AHI, events per hour) was [median (25-75%)]: 2.5 (1.0-3.4), 2.4 (1.5-3.1) and 0.7 (0.7-0.9) in acyanotic, cyanotic CHD infants and controls, respectively (p=0.013). Almost all congenital heart disease infants (11 out of 14) and only one control infant had an AHI >1 event/hour. The minimum oxygen saturation was 79% (74-82), 73% (57-74) and 90% (90-91) in the acyanotic, cyanotic congenital heart disease infants and controls, respectively (p <0.001). The arousal index (events/hour) was similar among the three groups at 8.4 ±2.4, 10.3 ±8.7 and 6.5 ±3, respectively (p=0.451). CONCLUSIONS: Infants with congenital heart disease frequently present with sleep-disordered breathing associated with oxygen desaturations but not arousals. Therefore, sleep may represent a significant burden to infants with congenital heart disease.

O distúrbio rítmico do movimento, também chamado jactatio capitis nocturna, é considerado um distúrbio do sono da infância e caracteriza-se por movimentos estereotipados que ocorrem no início ou no começo do sono. Relatamos o caso de um rapaz de 19 anos com história de movimentos rítmicos de cabeça e de balanceio do tronco desde lactente, sempre associados ao início do sono e de ocorrência diária. Tem antecedente de prematuridade mas com desenvolvimento neuropsicomotor normal. Seu exame físico geral e neurológico foram normais. O estudo polissonográfico hospitalar mostrou: tempo total de sono de 178 minutos, com eficiência de sono de 35,8%; latência de sono 65 minutos; e latência do sono REM 189 minutos. Não se observou apnéia e os movimentos de balanceio de cabeça ocorreram em torno de 4/minuto em vigília e nos estágios 1 e 2. Não foram observadas alterações eletromiográficas tônicas ou fásicas durante o sono REM. O paciente foi medicado com clonazepam (0,5 mg/dia) por 3 semanas sem melhora dos movimentos e a seguir recebeu midazolam (15 mg/dia) por 2 semanas, também sem resposta. Cloridrato de imipramina (10 mg/dia) produziu melhora significativa do quadro. Em suma, relatamos um caso de distúrbio ritmico do movimento com aspectos clinicos e terapêuticos atípicos.

Rhythmic movement disorder, also known as jactatio capitis nocturna, is an infancy and childhood sleep-related disorder charactherized by repetitive movements occurring immediately prior to sleep onset and sustained into light sleep. We report a 19-year-old man with a history of headbanging and repetitive bodyrocking since infancy, occurring on a daily basis at sleep onset. He was born a premature baby but psychomotor milestones were unremarkable. Physical and neurological diagnostic workups were unremarkable. A hospital-based sleep study showed: total sleep time: 178 min; sleep efficiency index 35.8; sleep latency 65 min; REM latency 189 min. There were no respiratory events and head movements occurred at 4/min during wakefulness, stages 1 and 2 NREM sleep. No tonic or phasic electromyographic abnormalities were recorded during REM sleep. A clinical diagnosis of rhythmic movement disorder was performed on the basis of the clinical and sleep studies data. Clonazepam (0.5 mg/day) and midazolam (15 mg/day) yielded no clinical improvement. Imipramine (10 mg/day) produced good clinical outcome. In summary, we report a RMD case with atypical clinical and therapeutical features.

Tem sido descrita na literatura a ocorrência de movimentos mioclônicos e distônicos como expressão isolada de uma condição neurológica de caráter hereditário. Para essa entidade alguns autores propõem a denominação "distonia mioclônica hereditária", enquanto outros preconizam o uso da expressão "mioclonia essencial hereditária". O presente relato refere-se a uma família em que essa peculiar associação de movimentos anormais acometia diversos membros em três gerações. O propósito é uma paciente de 14 anos com movimentos distônicos instalados aos 7 anos e mioclonias aos 13 anos, com evolução lenta e tendendo à estabilização. Não havia referência a melhora sob ação do álcool (paciente abstêmia). A história familiar mostrava outros casos semelhantes. A investigação complementar (dosagens sericas de cobre, ceruloplasmina, T3, T4, TSH; pesquisa de acantócitos; exame do LCR; tomografia e ressonância do segmento cefálico) não revelou anormalidades. O quadro foi satisfatoriamente controlado com clonazepam na dose de 3 mg/dia.

The occurrence of myoclonic and dystonic movements as an isolated expression of a neurologic condition of hereditary pattern have been scarcely described in literature. For this entity some authors proposed the denomination "hereditary myoclonic dystonia" while others prefer the use of the expression "hereditary essential myoclonus". We present a family in which this unusual association of abnormal movements affected several members in three generations. The propositus patient is a 14-year-old girl who have noticed the dystonic movements by 7 years of age and the myoclonic ones by 13 years of age, with a slow progression. There was no reference about the effect of alcohol (abstemious patient). There was a family history of similar cases. The suplementary investigation (seric dosage of cupper, ceruloplasmine, T3, T4, TSH; acanthocytes search; CSF examination; CT scan and MRI of the head) did not show any abnormality. Clonazepam was the only medication that lead to a clinical improvement, reducing both movements.