Sleep in infants with congenital heart disease

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 percent 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 percent)]: 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 percent (74-82), 73 percent (57-74) and 90 percent (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.

Jactatio capitis nocturna with persistence in adulthood: case report

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 mim. 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 RDM case with atypical clinical and therapeutical features.

Mioclonia essencial hereditária: relato de uma família / Hereditary essencial myoclonus: report of a family

Tem sido descrita na literatura ocorrência de movimentos mioclônicos e distônicos como expressäo isolada de uma condiçäo neurológica de caráter hereditário. Para essa entidade alguns autores propöem a denominaçäo "distonia mioclônica hereditária", enquanto outros preconizam o uso da expressäo "mioclonia essencial hereditária". O presente relato refere-se a uma família em que essa peculiar associaçäo de movimentos anormais acometia diversos membros em três geraçöes. O propósito é uma paciente de 14 anos com movimentos distônicos instalados aos 7 anos e miocloniais aos 13 anos, com evoluçäo lenta e tendendo à estabilizaçäo. Näo havia referência a melhora sob açäo do álcool (paciente abstêmia). A história familiar mostrava outros casos semelhantes. A investigaçäo complementar (dosagem sericas de cobre, ceruloplasmina, T3, T4, TSH; pesquisa de acantócitos; exame do LCR; tomografia e ressonância do segmento cefálico) näo revelou anormalidades. O quadro foi satisfatoriamente controlado com clonazepam na dose de 3 mg/dia