Spastic Quadriparesis Research Articles

GLUCOSE PRODUCTION RATES IN INFANTS WITH CONGENITAL HIV INFECTION. 702

Congenital human inmunodeficiency virus infection (HIV) can lead to brain damage in utero. Because the CNS utilizes the majority of circulating glucose in the normal infant, we explored the use of whole-body glucose production rate (GPR) to detect prenatal brain damage using (6,6-2H2) glucose tracer. We performed 20 studies in 16 patients, weight range 790-3714 g, between 2 and 35 days of age, born to mothers with HIV disease. Final HIV status is known in 14 patients, two are pending results. At follow up at 3 to 34 months, 2 infants have died, one of HIV and the other with severe brain damage not related to HIVinfection. The two infants who are HIV positive were premature; however, the HIV negative infants include 2 prematures (25%). The GPR of HIV positive babies was 5.4mg/kg/min, not significantly different from HIV negative infants, GPR 4.75mg/kg/min. One infant who developed hydrocephaly and spastic quadriparesis, not related to HIVstatus, had a low GPR of 3.5mg/kg/min. We conclude that GPR of infants exposed to HIV in utero is similar to that of normal babies.

Basal ganglia infarction associated with HHV-6 infection

A 6 year old boy presented with meningoencephalitis and was found to have serological evidence of acute human herpes virus-6 (HHV-6) infection. He did not develop symptomatic seizures or the...

Myelinolysis after Correction of Hyponatremia

Myelinolysis is a neurologic disorder that can occur after rapid correction of hyponatremia. Initially named "central pontine myelinolysis," this disease is now known to also affect extrapontine brain areas. Manifestations of myelinolysis usually evolve several days after correction of hyponatremia. Typical features are disorders of upper motor neurons, spastic quadriparesis and pseudobulbar palsy, and mental disorders ranging from mild confusion to coma. Death may occur. The motor and localizing signs of myelinolysis differ from the generalized encephalopathy that is caused by untreated hyponatremia. Experiments have duplicated the clinical and pathologic features of myelinolysis by rapidly reversing hyponatremia in animals. Myelinolysis is more likely to occur after the treatment of chronic rather than acute hyponatremia and is more likely to occur with a rapid rate of correction. The exact pathogenesis of myelinolysis has not been determined. Optimal management of hyponatremic patients involves weighing the risk for illness and death from untreated hyponatremia against the risk for myelinolysis due to correction of hyponatremia. Experiments in animals and clinical experience suggest that correction of chronic hyponatremia should be kept at a rate less than 10 mmol/L in any 24-hour period.

The Orthopaedic Manifestations of Pelizaeus-Merzbacher Disease in Children

Summary Pelizaeus-Merzbacher disease (PMD) is a degenerative leukodystrophy of the central nervous system resulting in progressive spasticity and neurologic deterioration. Seitelberger (13) divided this rare disease into six types. Five patients with the type I and two patients with the type II form of PMD have been treated at the Children's Hospital of Eastern Ontario. Our study sought to identify the orthopaedic manifestations of PMD and to develop a common orthopaedic profile for these patients. All children with types I and II PMD developed spastic quadriparesis, truncal hypotonia, thoracolumbar scoliosis, soft-tissue contractures of the adductors and hamstrings, osteopenia, bilateral coxa valga, and associated hip dislocation.

The orthopaedic manifestations of Pelizaeus-Merzbacher disease in children.

Pelizaeus-Merzbacher disease (PMD) is a degenerative leukodystrophy of the central nervous system resulting in progressive spasticity and neurologic deterioration. Seitelberger (13) divided this rare disease into six types. Five patients with the type 1 and two patients with the type II form of PMD have been treated at the Children's Hospital of Eastern Ontario. Our study sought to identify the orthopaedic manifestations of PMD and to develop a common orthopaedic profile for these patients. All children with types I and II PMD developed spastic quadriparesis, truncal hypotonia, thoracolumbar scoliosis, soft-tissue contractures of the adductors and hamstrings, osteopenia, bilateral coxa valga, and associated hip dislocation.

Neurological outcome of severe cystic periventricular leukomalacia.

To determine the neurological outcome of a cohort of premature babies having ultrasound diagnoses of severe cystic periventricular leukomalacia. All neonatal intensive care unit admissions born at less than 35 weeks gestation or weighing less than 1500 g underwent serial cranial ultrasounds. Those developing severe bilateral cystic periventricular leukomalacia (12 patients) were then followed clinically to a mean age of 27.3 months. Ten of the 12 patients fulfilling strict ultrasound criteria survived. All had a major neurological handicap, all having spastic quadriparesis and visual impairments, with most suffering global developmental delay and epilepsy. Severe bilateral cystic periventricular leukomalacia results in major permanent handicap. It is currently impossible to identify most patients with this condition while they are being ventilated. Non-ultrasound techniques are needed to diagnose the condition earlier, and to give guidance to management.

Agranulocytosis Associated With Yohimbine Use

Drug-induced agranulocytosis, outside cancer chemotherapy and industrial toxin exposure, is an infrequent condition that carries a high mortality rate and has an estimated annual incidence of 8.4 cases per million population per year.1We report a unique case of agranulocytosis that developed after prolonged use of yohimbine. Report of a Case. A 69-year-old man with long-standing idiopathic impotence during 5 years of oral yohimbine therapy (5.4 mg three times a day) was admitted with a 3-week history of ataxia, frequent falls, and increasing spastic gait. His medical history revealed that in 1969 he had suffered a stroke syndrome with residual right-sided weakness. He was taking no medications other than yohimbine. His temperature on admission was 39°C, and his physical examination revealed that he had spastic quadriparesis. There was no clinical localization for the cause of fever. Laboratory tests revealed profound neutropenia (Table). The results of other laboratory studies, including

Medical and functional status of adults with cerebral palsy.

One hundred and one adults (19 to 74 years of age) with cerebral palsy were interviewed and examined. There were 52 subjects with dyskinesia, 28 with spastic quadriparesis, 11 with spastic diplegia, and 10 with spastic hemiplegia. Neuromuscular dysfunction was mild in two cases, moderate in 72 and severe in 27. 76 per cent of the subjects had multiple musculoskeletal problems. In 63 per cent, these occurred under 50 years of age, suggesting that abnormal biomechanical forces and immobility had led to excessive physical stress and strain, overuse syndromes, and possibly early joint degeneration. A number of the patients had urinary complaints due to difficulties with toilet accessibility and possible neurogenic bladder. General health care seemed satisfactory for acute illnesses, but preventive health care was almost totally lacking. Treatment for the musuculoskeletal system and availability of adaptive devices were less adequate than for children with cerebral palsy.

Serial neuroimages of acute necrotizing encephalopathy associated with human herpesvirus 6 infection

A previously healthy 8-month-old girl developed exanthem subitum and acute encephalopathy with status epilepticus, quadriplegia and bilateral abducens nerve palsies. Human herpesvirus-6 DNA was found in the cerebrospinal fluid by the polymerase chain reaction at the acute stage. Cranial computed tomography showed low density areas in the thalami and in the cerebellar and abducens nuclei. The distribution of the lesions was consistent with acute necrotizing encephalopathy. As for the thalamic lesions, a T2 weighted magnetic resonance image on the 24th day of the illness demonstrated low signal intensity surrounded by high intensity; 99mTc-ECD SPECT showed hypoperfusion, which suggested irreversible tissue damage. The patient is now 1 year 6 months old and has spastic quadriparesis with mental retardation and abducens nerve palsies.

Assessing the contribution of birth asphyxia to cerebral palsy in term singletons

In a geographically-based study, we investigated the risk of cerebral palsy following intrapartum asphyxia at term, and the contribution of intrapartum asphyxia at term to the overall rate of cerebral palsy. We used stringent criteria for identifying intrapartum asphyxia, while recognising that the initial hypoxial insult might have occurred in the antenatal period. In the first part of the investigation, a cohort of 160 term, singleton infants, with a low (< or = 3) 1-minute Apgar score, was followed to the age of 5 years. Six infants in the cohort had presumed intrapartum asphyxia, of whom two died in the neonatal period, three had spastic quadriparesis, profound developmental delay and visual impairment, and one was unimpaired. The frequency of cerebral palsy associated with birth asphyxia was estimated as one in 3700 full-term livebirths. To assess the impact of birth asphyxia on the overall rate of cerebral palsy, all cases of cerebral palsy born in the study period were identified. Of the 30 cases, the three identified in the follow-up study were the only ones whose impairment could be attributed to birth asphyxia in a full-term birth. Birth asphyxia at term therefore was associated with 10% [95% confidence interval (CI) 2.1, 26.5] of all cases of cerebral palsy and with 20% (95% CI 4.3, 48.1) of the 15 cases of cerebral palsy in children born at term.

Spastic Quadriparesis, Dysarthria, and Dysphagia following Cervical Hyperextension: A Traumatic Pontomedullary Syndrome

A 44-year-old man developed a clinical syndrome characterized by nonprogressive spastic quadriparesis, dysarthria, and dysphagia following a severe cervical hyperextension injury. These clinical features, coupled with normal neuroimaging studies, are consistent with a stretch injury of the corticospinal and corticobulbar tracts at the pontomedullary junction.

MRI, Clinical, and Biochemical Features of Partial Pyruvate Carboxylase Deficiency

We report a boy with a partial deficiency of pyruvate carboxylase as documented in enzyme assays of skin fibroblasts, lymphocytes, and hepatic tissue. Magnetic resonance imaging at age 20 months demonstrated a leukodystrophic process involving the brain stem and subcortical white matter, which, except for the brain stem, improved after biotin treatment. The lymphocyte pyruvate carboxylase activity of both heterozygous parents slightly increased after receiving oral biotin for 1 month, but a definitive enzymatic response to biotin was not confirmed in our patient. At age 6 years, he is dysarthric with a spastic quadriparesis despite improvements in development and myelination. This is the first demonstration of magnetic resonance imaging changes in this disease.

Clustering of perinatal markers of birth asphyxia and outcome at age five years

In a cohort of term infants with cerebral depression at delivery, to investigate the association of perinatal signs of birth asphyxia, particularly abnormal fetal heart rate patterns in labour, acidaemia, and serious neonatal encephalopathy, with neurodevelopmental outcome at age five years. Five year follow up study of a birth cohort. Regional maternity hospital. One hundred and eighty-four singleton infants with a 1 min Apgar score < or = 3, born at term between January 1984 and September 1985. Neonatal death, cerebral palsy, and scores on a battery of neurodevelopmental tests at age five. Seven infants had a cluster of perinatal signs suggestive of birth asphyxia; all included serious neonatal encephalopathy. Three of these infants died neonatally, three had spastic quadriparesis with profound developmental delay, and one was unimpaired at the age of five. Among the remaining infants, no association was found between severely abnormal fetal heart rate patterns in labour and scores on neurodevelopmental tests, or between acid-base status at delivery and test scores. Birth asphyxia, identified by a cluster of abnormal perinatal signs, including serious neonatal encephalopathy, has a poor prognosis. If serious encephalopathy is not present, cerebral depression at birth preceded by abnormal fetal heart rate patterns in labour, or with acid-base derangement, is not predictive of later impairment.

Sleep abnormalities in patients with severe cerebral palsy.

The all-night polysomnographic findings of nine patients with spastic quadriparesis (mean age 36.7 months) were analysed retrospectively and compared with those of nine age-matched controls (mean age 37.4 months). The cerebral palsy group had significantly more respiratory disturbances per hour of sleep, with five of nine being diagnosed as having obstructive sleep apnea. They also had fewer changes in body position during the night. Interictal epileptiform discharges averaged 23.3 per cent of the total arousals in the cerebral palsy group. Obstructive apnea, decreased ability to change body position, and interictal epileptiform discharges are prevalent in the sleep of patients with severe cerebral palsy, and contribute towards its disruption.

Pontine and Extrapontine Myelinolysis

Neurologic disorders developing after correction of severe, symptomatic hyponatremia were studied in 14 patients. None had a hypoxic event or other identifiable cause for the neurologic illness. Neurologic deterioration began about 3 days after correction and often followed a period of improvement in hyponatremic encephalopathy. Although the symptoms were as mild as transient confusion in 1 patient, they were more severe in the others. Typically, spastic quadriparesis, pseudobulbar palsy, and impairment in the level of consciousness progressed for up to 7 days. Improvement generally began 2 weeks after correction and continued for up to a year in some patients. Routine spinal fluid analysis was usually normal, but myelin basic protein concentration was elevated in all patients in whom it was measured. Electroencephalograms commonly showed nonfocal slowing. Brainstem auditory evoked potential latencies were prolonged in some patients. Brain imaging was normal in the initial week of illness, while later scans, obtained in 9 patients, showed central pontine and/or symmetric extrapontine lesions. The clinical manifestations and distribution of lesions seen on imaging demonstrate that neurologic illness following correction of hyponatremia is due to myelinolysis. Although this neurologic disorder typically followed an elevation in serum sodium > 18 mEq/L/24 hr, it sometimes followed a rise as slow as 10 mEq/L/24 hr and 21 mEq/L/48 hr. Whenever possible, the rate of correction of hyponatremia should be kept below these values in order to minimize the risk of myelinolysis.

SPLATT combined with tendo achilles lengthening for spastic equinovarus in adults: results and predictors of surgical outcome.

During a 4-year period, split anterior tibial tendon transfer (SPLATT) was performed on 42 adults with cerebrospastic equinovarus deformity. Twenty-one patients (24 feet) had a minimum 1-year follow-up, which included detailed documentation of foot appearance position and function as well as ambulatory status. Thirteen patients were male and 8 were female. Average age of the patients was 41 years. Seventeen patients were independent ambulators with orthoses, one was a maximally assisted ambulator. Three patients with spastic quadriparesis were nonambulatory. All patients had uniform surgical technique and postoperative management. This paper presents the results of SPLATT and identifies risk factors for poor surgical outcomes. After an average follow-up of 39 months, 83% of the feet were rated as having good or excellent results. All ambulatory patients had improved gait and 35% of them were able to discontinue their orthoses. Poor surgical outcomes were associated with nonambulatory status in brain injured patients (P = .018). Salvage of failed SPLATT is discussed.

Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.

MethylmalonylCoA mutase (MCM) is a mitochondrial homodimer responsible for the isomerization of methylmalonylCoA to succinylCoA. Apomutase defects are traditionally divided into muto and mut- classes on the basis of residual mutase activity. Clinical findings were reviewed in 20 patients with methylmalonic aciduria secondary to MCM deficiency. All 11 muto patients had an early neonatal presentation; 6 of these patients died in infancy and 3 of 5 survivors had a poor neurological outcome as evidenced by severe delay or spastic quadriparesis with dystonia. The 2 other survivors include a 27-month-old child with a mild delay in verbal and fine motor skills and an adolescent with low normal intelligence. Of the 9 mut- patients, 7 became symptomatic in late infancy or childhood and 2 were picked up on screening. Two of the 9 patients have never had an episode of metabolic decompensation yet both are neurologically compromised; one severely retarded and autistic, the other mildly delayed. Four mut- patients have had episodic acidosis and are neurologically moderately affected, while 3 have had episodic acidosis and are neurologically intact. These results confirm phenotypic pleomorphism without a consistent pattern of neurological injury and suggest some broad correlation between mutase class and phenotype. Survival with good outcome is possible among muto patients as is significant morbidity among mut- patients. Acidosis and metabolic imbalance are not necessary preconditions for significant morbidity.

Lesch‐Nyhan syndrome in a girl

Lesch-Nyhan syndrome (McKusick 308000) is characterized by hyperuricaemia, choreoathetosis, spasticity, mental retardation, and self-mutilation. This disorder results from a complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT), an enzyme encoded by a single gene on the X chromosome (Xq26-q27) (Stout and Caskey 1989), and has already been identified in a female patient (Ogasawara et al 1989). We report a second case of a female Lesch-Nyhan patient. This girt was born from healthy non-consanguineous parents and had a healthy brother and sister. The circumstances of her birth were normal (weight 2720 g after 37 weeks of gestation; APGAR score at 10 after 1 min), but a transient hypoglycaemic episode was noticed on her first day of life. Hypotonia and developmental retardation appeared in her first months of life. Three febrile convulsive episodes occurred between 18 and 36 months of life. Self-mutilation of her fingers occurred when she was 4 years old and still persisted when we saw her at 7 years of age. Weight and height were three standard deviations below the normal range, but cranial circumference was in the normal range. There were severe biting lesions of her finger extremities. On neurological examination, the girl had excellent social contact but her language was dysarthic and poor for age. Examination of the cranial nerves was normal. A spastic quadriparesis was present, making the sitting position impossible without support. Prehension of objects was acquired but was dystonic and clumsy. There were no sensory disturbances. Electroencephalogram and cranial computed tomographic scan were unremarkabte. Hyperuricaemia (467 #tool/L) and elevated 24-h urinary uric acid to creatinine ratio (1.1) were consistent with HPRT deficiency, which was confirmed by measurement of enzyme activity in erythrocytes (0.11 nmol min-1 (mg haemoglobin)-1) for the patient, the normal value for our laboratory being 2.09 _+ 0.37). The karyotype was 46 XX and no morphological abnormalities could be identified by a high-resolution analysis of the chromosomes. In the case described by Ogasawara et al (1989), a Southern analysis of DNA identified a deletion that involved the entire HPRT gene and was not found in the parents. Furthermore, these authors showed that this de novo mutation occurred on the maternal X-chromosome; so it was concluded that there had been non-random inactivation of the cytologically normal paternal X-chromosome. We tried to determine the carrier status of our patient's mother by using cultured fibroblasts, since it has been demonstrated that obligate heterozygotes are mosaics

Diagnosis and treatment of ossification of the posterior longitudinal ligament of the spine: Report of eight cases and literature review

purpose: Ossification of the posterior-longitudinal ligament (OPLL) is a common, well-recognized cause of spinal stenosis and myelopathy in Japan. Although also common in whites, especially among the elderly, it has received little scientific attention. We wish to increase awareness of this important cause of myelopathy, and to determine if the clinical characteristics of OPLL are similar in non-Japanese and Japanese patients. patients and methods: The Clinical and radiologic features of eight cases of OPLL are presented. These cases combined with 73 non-Japanese cases gathered from the English literature are contrasted with 2,125 Japanese cases of OPLL. results: Similarities among non-Japanese and Japanese cases included: (1) male predominance; (2) peak age at onset of symptoms in the sixth decade; (3) clinical presentation, which ranged from asymptomatic to quadriplegia, with progressive or acute onset of neurologic deterioration; (4) greater than 95% localization to the cervical spine, spastic quadriparesis being the most common neurologic presentation; (5) an association with several rheumatic conditions including diffuse idiopathic skeletal hyperostosis (DISH), spondylosis, and ankylosing spondylitis; and (6) neurologic improvement with either conservative or surgical treatment in a significant proportion of patients. Differences between the two groups were minimal and included a higher mean age at onset (although onset in both groups occurred within the sixth decade) and a greater proportion of patients with DISH and with the continuous type of OPLL in the nonJapanese group. conclusion: The clinical characteristics of OPLL are similar in Japanese and non-Japanese patient populations. Increased awareness of this condition, which has potentially devastating neurologic complications, will favorably influence diagnosis, treatment, and outcome.

Superior mesenteric artery syndrome: an unusual cause of intestinal obstruction in brain-injured children.

Superior mesenteric artery syndrome is a rare cause of upper intestinal obstruction in both adults and children. Sixteen children with severe traumatic brain injury and spastic quadriparesis developed small intestinal obstruction while undergoing a rehabilitation programme between 1981 and 1990. Five patients met the roentgenographic diagnostic criteria. The presenting symptom was post-prandial bilious vomiting. The mean age was 13 (10-16) years. The mean time clapsed from injury to diagnosis was 53 days and from rehabilitation admission to diagnosis 22 days. The mean delay in diagnosis after onset of symptoms was 4 days. All patients were of disproportionately lower body weight in relation to height, with a mean weight loss of 7 kg. The mean percentile for weight was 18 and height 58, with a difference of 30 between height and weight percentiles. The patients were receiving nasogastric or gastrostomy tube feedings at the onset of the symptoms. All patients were treated non-surgically with gastric aspiration, nasojejunal or gastrojejunal feeding by passing a feeding tube distal to obstruction. No patient required intravenous hyperalimentation. There was no recurrence in any patient during the follow-up period of 1-5 years. Though rare, superior mesenteric artery syndrome can develop in brain-injured children with spastic quadriparesis, prolonged recumbency and recent weight loss. Increased awareness of occurrence of this condition and timely management will decrease morbidity and complications that may interfere with recovery.