The not-so-benign Miller Fisher syndrome: a variant of the Guilain-Barré syndrome.

Two patients with Fisher's syndrome of ophthalmoplegia, ataxia, and areflexia experienced severe weakness and respiratory distress. Both patients required tracheostomy and assisted ventilation, but both made a complete recovery. Fisher's syndrome is generally considered to be a benign variant of acute infectious polyneuropathy (the Guillain-Barre syndrome). Our two patients demonstrate that the condition is not always benign.

Postural reflex gelastic seizures.

A 26-year-old man had gelastic seizures ("laughing attacks") preceded by an aura of sexual pleasure. They were reflexly induced by volitional hyperextension of his neck and trunk. His EEGs showed a right temporal spike focus. We discuss the characteristics of this unique case.

Cardiovascular-reflex testing and single-fiber electromyography in botulism. A longitudinal study.

Four patients with botulism were studied on admission and at different times after intoxication, using a battery of cardiovascular autonomic tests. The results were compared with clinical status and single-fiber electromyographic findings. In the early stage of intoxication, the control of heart-rate and blood-pressure responsivity was markedly impaired, as was the neuromuscular transmission. At follow-up, results of sympathetic tests normalized earlier than those of parasympathetic tests. The recovery of autonomic function was slower than that of neuromuscular transmission in three patients. Monitoring autonomic derangement in botulism adds further information on the course of the disease and may identify patients at risk for cardiac or respiratory arrest. Further clinical investigation can help in determining more precisely the autonomic sites where the toxin acts.

Neurologic correlates of osteogenesis imperfecta.

The neurologic status of ten patients with osteogenesis imperfecta (OI) was evaluated. Four patients with mild OI (type I) had normal neurologic findings and normal computed tomographic scans. Three of these four patients had macrocephaly. All six patients with severe OI (type III) had cortical atrophy on computed tomographic scan and three were also macrocephalic.

Peripheral polyneuropathy associated with primary malignant lymphoma of the brain.

A patient with a primary malignant lymphoma of the brain manifested a peripheral polyneuropathy during his illness that could not be accounted for by the usual causes. The polyneuropathy is considered to be a nonmetastatic complication of the primary brain tumor. A review of the literature did not uncover a similar case.

Miller Fisher syndrome: clinical and electrophysiologic evidence of peripheral origin in 10 cases.

Clinical and electrophysiologic data recorded in patients with Fisher syndrome characterized by ophthalmoplegia, ataxia, and areflexia are presented. Cases with limb weakness or pleocytosis in the CSF were excluded, according to Fisher. Ten patients were selected. All had hand and foot numbness. A large amount of protein without cell reaction was found during the third week of illness in serial CSF examinations. EMGs showed very slight limb involvement without spontaneous activity, and in most cases, facial muscles exhibited a denervation pattern. Distal motor nerve conduction velocity on limbs and F wave latencies were normal, whereas the sensory nerve action potentials were altered in all but one case when tested (seven out of eight cases). By means of blink reflex study performed in four patients, no significant pattern of brainstem dysfunction was discovered. The authors discuss the preeminent role of peripheral nerve lesions with regard to the ataxia and ophthalmoplegia.

Hoquet diabolique: intractable hiccups as a manifestation of multiple sclerosis.

In three patients, intractable hiccups occurred as part of the symptomatology of multiple sclerosis. In one patient intractable hiccups were the presenting complaint, and in another patient exacerbations of symptoms were almost always heralded by intractable hiccups. Intractable hiccups occur in a variety of diseases, including many that affect the brainstem and cervical cord, but have not been reported in multiple sclerosis. The hiccup may be a "primitive" gastrointestinal reflex that is disinhibited by lesions such as multiple sclerosis plaques. Carbamazepine was successful in arresting the hiccups in one of the cases presented.

Fisher syndrome in childhood.

Three children, age 2, 7, and 12, developed Fisher syndrome: inability to walk because of ataxia, complete areflexia, and ophthalmoplegia. Ptosis was prominent in all the children, but the pupillary response to light was affected only in one child. Limb weakness was never present, and sensation normal. One patient was obtunded for several days. Two had prodromal upper respiratory tract illnesses, and the third patient was bitten by an insect 2 days before her symptoms began. Cerebrospinal fluid (CSF) protein content was moderately increased in all patients, but only one child's CSF had a pleocytosis. CSF gamma globulin levels were normal. In the acute phase, F waves and H responses were absent in two cases but returned to normal with clinical recovery. All three patients had marked electroencephalographic (EEG) abnormalities that later improved. The EEG pattern suggested a brainstem disorder. These findings plus the obtundation, gaze paralysis, and ataxia indicate that in Fisher syndrome there is parenchymal involvement of the central nervous system with or without nerve root involvement.

Three patients with Fisher's syndrome and normal MRI.

Three patients with Fisher's syndrome had normal MRI scans of the brainstem 6 days, 7 days, and 5 weeks, respectively, after the onset of illness. This further supports a peripheral origin for the ataxia and ophthalmoplegia in this illness and distinguishes it from brainstem encephalitis.

Acute hemiparesis in juvenile insulin-dependent diabetes mellitus (JIDDM).

Four episodes of acute left hemiparesis occurred in three pediatric-age, insulin-dependent diabetic patients. Each had a concomitant respiratory tract infection and headache, but no obvious signs of systemic hypoglycemia. No cerebral abnormalities were demonstrated by angiography or computerized tomography. The clinical course was benign, with slow but complete resolution of neurologic abnormalities within 8 to 24 hours of onset, and no further neurologic complaints in a 7- to 16-month follow-up.

Neonatal diagnosis of familial dysautonomia.

The serious prognostic implications of familial dysautonomia (FD) for the affected individual and his family make early definitive diagnosis mandatory. Familial dysautonomia has rarely been diagnosed in the neonatal period in hitherto unaffected families. We describe here three such newborn patients to reinforce the limited data available on this subject. In spite of the variability of expression and the incompleteness of the manifestations of FD in the neonatal period, as well as the presence of a number of "dysautonomic" features in normal newborns, we believe that it is possible to establish a diagnosis of FD neonatally. We pay particular note to the altered state of consciousness and behavior in neonatal FD, the unusual posture and limb movements, and the swallowing disorder with tendency to neonatal aspiration. In addition, the incidental finding of bile pigment in the amniotic fluid of an affected fetus without hemolytic disease may hint at a possible approach to fetal diagnosis of this condition.

Behcet's disease presenting as chronic aphthous stomatitis in a child.

Behcet's disease is a chronic, recurrent, inflammatory disease of unknown cause that involves mucous surfaces, skin, eyes, joints, and the CNS. Although not reported in the pediatric literature, some cases start in childhood. This report describes a child whose chronic oral and genital ulcers preceded recognition of her gastrointestinal tract, eye, and CNS disease for nine years. The current knowledge of Behcet's disease in children is discussed.

Cystometric and perineal electromyography in spinal cord-injured patients.

The results of combined cystometry and perineal electromyography were reviewed retrospectively in 50 consecutive, traumatic spinal cord-injured patients. Early and frequent urodynamic evaluation was found necessary in order to tailor treatment to the changing cystometric and electromyographic states in these patients.

Rapid and slow-fill gas cystometry. Influence on bladder capacity and diagnosis of hyperreflexic bladder.

Rapid-fill gas cystometry has been criticized for giving a falsely low value of bladder volume and for inducing an "artefact", the hyperreflexic bladder. This study in 72 patients revealed that the average capacity with slow-fill air cystometry was less than with rapid fill. The diagnosis of hyperreflexic bladder was made more often with slow fill than with rapid fill in these 72 patients.

Accurate diagnosis of detrusor areflexia using combined uroflowmetry and abdominal wall electromyography.

Twenty-three patients who previously demonstrated no detrusor contraction during cystometry were evaluated using a combined uroflowmetry and abdominal wall electromyography. Ten patients voided without abdominal straining (normal detrusor reflexia), 11 could not void without abdominal straining (detrusor areflexia, detrusor weakness, or bladder outlet obstruction), and 2 had equivocal findings with the method.

Incontinence of urine due to instability of micturition reflexes. Part II. Pudendal nucleus instability.

Overinhibition or underfacilitation of the pudendal nucleus may cause profound involuntary relaxation of the striated muscles of the pelvic floor and perineum, including the "external" striated urethral sphincter. Pudendal nucleus instability may adversely affect urethral closure pressure and preclude a successful voluntary "recovery" effort to limit stress incontinence. It may also result in the involuntary loss of an important source of inhibition to the sacral micturition reflex center, which can lead to detrusor instability. The bilateral reciprocal relationship which exists between the detrusor reflex and the pelvic floor muscle tonus is fundamental to micturition instability syndromes. In this article, the pathophysiology of interaction of pudendal nucleus instability, detrusor reflex instability, and stress is described, and the importance of careful diagnostic evaluation of each case of incontinence is emphasized.

Urologic aspects of tethered cord.

Tethered cord syndrome, a form of spinal dysrhaphism, may involve vesical neurologic dysfunction. We present herein 60 cases of tethered cord syndrome, including 24 patients who underwent preoperative urodynamics studies. Preoperative cystometrography revealed areflexic bladders in 71 percent of cases and hyperreflexic bladders in 29 percent. Eight patients had serial pre- and postoperative urodynamics testing. Slight improvement was noted in postoperative urodynamics studies performed on 4 of 6 areflexic bladders and in the only hyperreflexic bladder studied. In addition, of the 3 patients in the serial urodynamics groups who had urinary symptoms preoperatively, 2 noted clinical improvement postoperatively. The urologist's role is important in the early detection, evaluation, and treatment of tethered cord syndrome and the neuropathic bladders that may result.

Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?

An 18-year-old boy showed childhood onset of mental retardation, neurogenic muscle atrophy with hyperreflexia, Marfan-like features, multiple epiphyseal dysplasia, increased urinary excretion of dermatan sulfate, and decreased lysosomal enzyme activities in beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-D-glucosaminidase. This case may be a new syndrome, the combination of neurogenic muscle atrophy with lysosomal enzyme deficiencies.

The nosological position of Fisher's syndrome (ophthalmoplegia, ataxia and areflexia).

Fisher's syndrome was studied in six patients, one of whom was an 11-year-old girl, and the nosological position of this neuro-ophthalmological disorder was reviewed. The clinical features of the ophthalmoplegia in these cases were reported as secondary to a transient inflammatory lesion in the mid-brain; this was demonstrated in one of the cases by an enhancing area on CT scan. This mid-brain localization could explain not only the classical Fisher's triad but also many variations of the syndrome. The overlap of our cases of Fisher's syndrome with so-called brain-stem encephalitis of Bickerstaff has been emphasized. Many cases of Fisher's syndrome could therefore correspond to an inflammatory process at brain-stem level with or without nerve-root involvement. Clinical and neurophysiological findings show, however, that there is peripheral damage in some cases, so that a neutral attitude needs to be maintained on the nosological position of Fisher's syndrome.

The group of hypotonic schizophrenics.

The physical and psychological characteristics of hypotonic schizophrenic children are described. It is hypothesized that hypotonic schizophrenia constitutes a homogeneous subgroup within the schizophrenic spectrum. The criteria for diagnosing hypotonic schizophrenia are stated. By selecting a homogeneous subgroup of schizophrenic patients, investigators may improve the probability of identifying a common biochemical etiology within this subgroup.