Abnormal orbicularis oculi reflex response in sleep apnea secondary to acromegaly. Evidence of pontomedullary dysfunction in sleep apnea syndrome.

Severe sleep apnea was present in a patient with upper airway obstruction due to acromegaly. The study of orbicularis oculi reflex responses (OORR) disclosed a marked prolongation of the late response prior to tracheostomy. Following the surgical relief of upper airway obstruction, sleep apnea disappeared, and the latency of the late response of the OORR was dramatically reduced but failed to normalize. The OORR and especially its late response were normal in a patient with acromegaly who did not experience sleep apnea. In two patients with sleep apnea, but without acromegaly, the late responses of the OORR were abnormal. It is suggested that the presence of abnormal OORR in sleep apnea may reflect a basic defect in pontomedullary control of respiration during sleep.

Epilepsy among parents of children with cleft lip and palate.

It is well established that children of mothers with epilepsy may suffer from facial clefts more frequently than children of non-epileptic mothers. However, a wide range of prevalence rates in this particular population is quoted in the literature. The majority of studies were performed by screening epileptic mothers for the presence of facial clefts in their offspring. The present study screened a relatively large group of children with primary facial clefts and established the prevalence rate of epilepsy among their mothers. It was found that the frequency of epilepsy among Jewish Israeli mothers to children with facial clefts is four times higher and the frequency of facial clefts in children of epileptic mothers is six times higher than in the respective normal population.

Episodic hormone secretion during sleep in Kleine-Levin syndrome: evidence for hypothalamic dysfunction.

"Acute" hypothalamic-pituitary function tests including insulin tolerance test, LRH, ACTH and TRH stimulation tests and nocturnal secretory pattern of human growth hormone, 11-OHCS, prolactin, FSH, LH and TSH were studied in a 23-year-old male with Kleine-Levin syndrome during the course of a typical hypersomnic attack. The "acute" tests revealed paradoxical growth-hormone response to TRH stimulation, borderline high basal plasma prolactin levels with normal response to TRH. The hormonal secretory pattern during sleep revealed abnormalities in LH, 11-OHCS and prolactin secretion. These together with the results of the "acute" tests are indicative of an abnormality in the hypothalamic regulation of various pituitary hormones. This observation may indeed be the first laboratory demonstration confirming a long-standing hypothesis that Kleine-Levin syndrome is related to hypothalamic dysfunction.

Clonidine treatment in paroxysmal localized hyperhidrosis.

We report two cases of paroxysmal localized hyperhidrosis (PLH), a rare disorder usually of undetermined origin. The patients were treated with clonidine hydrochloride on the assumption that this paroxysmal phenomenon is of CNS origin, probably hypothalamic. Both patients responded favorably to treatment. In treating PLH, clonidine may serve as an alternative approach to local or surgical treatment.

Phenytoin pharmacokinetics in catamenial epilepsy.

It is not known why the frequency of seizures sometimes increases in the perimenstrual period (catamenial epilepsy). We have examined the possibility that changes in anticonvulsant pharmacokinetics may be responsible. Seventeen women with seizures who were taking phenytoin (DPH) and whose seizures were more frequent perimenstrually were examined twice each, once on the first or second menstrual day and again after 2 weeks. Mean serum DPH levels were lower during the menses. In seven women with seizures unrelated to menses, the fall of DPH levels was much smaller. In catamenial epilepsy, the fall was due to increased DPH clearance. At the time of ovulation, hepatic DPH metabolism may be slowed by competition from steroid hormones.

Basal plasma HGH and cortisol levels and the effect of clonidine administration in female migrainous patients.

Clonidine, a central alpha-adrenergic agent and prophylactic antimigraine drug is known to stimulate human growth hormone (HGH) release and to suppress cortisol secretion. A possible association between basal hormonal levels and response to either acute clonidine test or chronic treatment in female migrainous patients was investigated. 15 females, aged 18-43 years, suffering from migraine, underwent an acute clonidine test by administration of a single oral dose of 0.15 mg. High basal HGH levels (greater than or equal to 9 ng/ml) were observed in 6 patients, while the other 9 patients demonstrated normal low basal HGH levels. Acute clonidine administration induced a marked rise of HGH in 8 of the 9 patients with low basal HGH. In 4 of the 8 responders HGH levels exceeded 20 ng/ml and 3 subjects reached the acromegalic range (greater than 90 ng/ml). The mean response in this group was higher than in a reference group consisting of children and adolescents. It is suggested that the basal hypersecretion and the hyperresponsiveness of HGH to clonidine provocation test in some migrainous patients results from a hypersensitivity of the central alpha-adrenergic receptors. 12 of the 15 females were treated for 10 weeks with clonidine at gradually increased doses of 0.05 mg/day up to a maximal dose of 0.15 mg/day. A marked suppressive effect on cortisol secretion was observed in the migrainous patients after acute and chronic administration of clonidine. No correlation was observed between HGH and cortisol response to acute or chronic clonidine administration and the prophylactic effect of clonidine on migraine.

The pupil cycle time in familial dysautonomia. Further evidence for denervation hypersensitivity.

The pupil cycle time (PCT) was prolonged in 11 subjects with familial dysautonomia. In the younger age group (10-19 years), mean PCT was 872 +/- 88 msec as compared to 15 normal age matched controls (728 +/- 88). In the 3 oldest patients (30-39 years) mean PCT was 980 +/- 133 msec as compared to 13 age matched normals (748 +/- 56). It is proposed that prolongation of PCT in familial dysautonomia may be due to functional denervation of the iris or that it is a result of a structural abnormality of its musculature and/or its neuromuscular junctions.

Neurological complications following rubella infection.

Neurological complications following rubella are only rarely encountered. However, in many cases severe neurological impairment may occur, leading to permanent disability. In a recent epidemic of rubella in Israel during the years 1978-1979, 20 patients with severe neurological complications have been seen. We report on 5 cases of which 3 are described in detail. Considering the efficacy of immunization against rubella, we suggest that in countries such as England and Israel in which periodic epidemics of rubella occur, a generalized plan of immunization should be undertaken during the first years of life. Such an approach will prevent the neurological complication of congenital, as well as acquired, rubella infection.

Further observations on sleep abnormalities in Kleine-Levin syndrome: abnormal breathing pattern during sleep.

In two adolescent and two adult patients with Kleine-Levin syndrome, polygraphic sleep recording performed during somnolent and non-somnolent periods revealed various forms of abnormal breathing patterns during sleep. These included periodic breathing and hypopnoeic episodes associated with brief arousals and, in one adult patient, a full blown sleep apnoea syndrome. It is suggested that abnormal breathing in sleep in this syndrome may result from central hypoexcitability.

Unilateral pupillary dilatation during focal seizures.

Pupillary dilatation was observed in a young boy who had a sudden onset of right focal seizures. Clinical and laboratory investigation revealed the presence of a benign left frontal epileptic focus. Lacking signs of third cranial nerve compression, this transient pupillary abnormality could be caused by the contralateral frontal epileptic focus. Such a focus might inhibit dilatation of the homolateral pupil, thus permitting dilatation of the contralateral pupil only. Unilateral mydriasis as described hereby could also represent a pupillary "Todd's Paralysis" caused by the contralateral frontal epileptic focus.

Somatosensory and autonomic neuropathy as the only manifestation of long standing leprosy.

The clinical and neuropathological findings in a patient with "neuritic" leprosy are described. In this rare form of leprosy, skin changes are only minimal or absent and the diagnosis can be established only by nerve biopsy.