Landau-Kleffner syndrome with lateral temporal focal cortical dysplasia and mesial temporal sclerosis: a 30-year follow-up.

A 39-year-old man, who presented at age 312 with Landau-Kleffner syndrome, had persisting oral and written language deficits into adulthood. Seizures were easily controlled in childhood, but reemerged in adulthood as medication-refractory complex partial seizures. Abnormal T2 signal hyperintensity was seen in the left mesial temporal area on brain MRI. Later, left temporal lobectomy revealed focal cortical dysplasia in the lateral temporal neocortex and gliosis plus neuronal loss in the hippocampus. This case suggests that focal cortical microdysgenesis may be a cause of the Landau-Kleffner syndrome. Persistent seizures in this illustrative case may have led to the evolution of dual-temporal-lobe pathology with mesial temporal sclerosis.

[Anesthetic management for elective cesarean section for a woman with beriberi]. / Manejo anestésico en cesárea electiva de una gestante con enfermedad de beriberi.

Beriberi is a disease caused by thiamine (vitamin B1) deficiency. Peripheral and central nerve involvement causes psychosis and memory loss as well as cardiocirculatory effects. We report the case of a 35-year-old woman 8 weeks pregnant who came to the emergency department after bouts of nausea and vomiting over a period of 6 days, with intolerance of both solids and liquids. The initial diagnosis of gastroenteritis was later changed to hyperemesis gravidarum. Episodes of vomiting and nausea continued 48 hours after admission, accompanied by vertical nystagmus, ataxia, and diminished osteotendinous reflexes. Evaluation of the clinical picture confirmed vitamin B1 deficiency, leading to a diagnosis of Wernicke-Korsakoff syndrome. Symptoms improved with thiamine therapy but did not entirely disappear. The patient was admitted for elective cesarean section at 37 weeks' gestation. Examination revealed neurological involvement (horizontal and vertical nystagmus) and general anesthesia was therefore chosen to assure adequate hemodynamic control given the possibility of cardiocirculatory alteration.

Manejo anestésico en cesárea electiva de una gestante con enfermedad de Beriberi / Anesthetic management for elective cesarean section for a woman with beriberi

El Beriberi es una patología ocasionada por el déficit de vitamina B1 o tiamina y que causa alteraciones nerviosas periféricas como neuropatías y centrales del tipo psicosis y pérdida de memoria, además de alteraciones del sistema cardiocirculatorio. Presentamos el caso de una mujer de 35 años de edad gestante de 8 semanas, que acudió a Urgencias por vómitos de seis días de evolución con intolerancia a sólidos y líquidos, diagnosticándose inicialmente de gastroenteritis y posteriormente de hiperémesis gravídica. A las 48 horas continuaba con episodios emético-vertiginosos, presentando nistagmo vertical, ataxia y reflejos osteotendinosos disminuidos. Tras valoración del cuadro clínico y confirmación analítica de déficit de vitamina B1, fue diagnosticada de Síndrome Wernicke-Korsakoff y se inició tratamiento con tiamina, con lo que se produjo mejoría clínica aunque no desapareció la sintomatología por completo. A las 37 semanas de gestación la paciente ingresó para cesárea electiva. A la exploración se observaba ataxia y nistagmo horizontal-vertical, por lo que ante la afección neurológica que presentaba se decidió realizar una anestesia general que permitiera el adecuado manejo hemodinámico dada la posible afectación del aparato cardiocirculatorio

Beriberi is a disease caused by thiamine (vitamin B1) deficiency. Peripheral and central nerve involvement causes psychosis and memory loss as well as cardiocirculatory effects. We report the case of a 35-year-old woman 8 weeks pregnant who came to the emergency department after bouts of nausea and vomiting over a period of 6 days, with intolerance of both solids and liquids. The initial diagnosis of gastroenteritis was later changed to hyperemesis gravidarum. Episodes of vomiting and nausea continued 48 hours after admission, accompanied by vertical nystagmus, ataxia, and diminished osteotendinous reflexes. Evaluation of the clinical picture confirmed vitamin B1 deficiency, leading to a diagnosis of Wernicke–Korsakoff syndrome. Symptoms improved with thiamine therapy but did not entirely disappear. The patient was admitted for elective cesarean section at 37 weeks’ gestation. Examination revealed neurological involvement (horizontal and vertical nystagmus) and general anesthesia was therefore chosen to assure adequate hemodynamic control given the possibility of cardiocirculatory alteration

Brote epidemiológico de distonía aguda poringestión de drogas de diseño / Epidemiological outbreak of acute dystonia due to designer durg intake

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33. We report two deletion mutations in a new gene that are found both in individuals with ALS2 and those with JPLS, indicating that these conditions have a common genetic origin. The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).

The efficacy of divalproex sodium in the prophylactic treatment of children with migraine.

OBJECTIVE: To determine the beneficial use of divalproex sodium as a prophylactic treatment for migraine in children. BACKGROUND: Previous studies for treatment of migraine in adults have shown a greater than 50% reduction in migraine attack frequencies. Few data exist, however, regarding the efficacy and safety of divalproex sodium use in children with migraine. METHODS: We studied the incidence of headache relief in our patients with migraine aged 16 years and younger treated with divalproex sodium prophylactically at our institution from July 1996 to December 1998 to determine medication dosage used, concomitant headache medications, and possible adverse effects. RESULTS: A total of 42 patients, ranging in age from 7 to 16 years (mean age, 11.3 years), were treated with divalproex sodium for headache. All had a history of migraine with or without aura. Baseline headache frequency during a minimum 6-month period was one to four headaches per month. Divalproex sodium dosage ranged from 15 mg/kg/day to 45 mg/kg/day. Of the 42 patients, 34 (80.9%) successfully discontinued their abortive medications. After 4 months' treatment, 50% headache reduction was seen in 78.5% of patients, 75% reduction in 14.2% of patients, and 9. 5% of patients became headache-free. CONCLUSION: These results indicate divalproex sodium to be an effective and well-tolerated treatment for the prophylaxis of migraine in children.

Persistent preceding focal neurologic deficits in children with chronic Epstein-Barr virus encephalitis.

Epstein-Barr virus encephalitis is a self-limiting disease with few sequelae. Persistence of neurologic deficits prior to and after the acute illness has yet to be described in children. We describe five children with persistent cognitive and focal neurologic deficits due to chronic Epstein-Barr virus encephalitis with various T2-weighted magnetic resonance imaging abnormalities. Clinical features were a 9-year-old boy with aphasia and apraxia, an 11-year-old girl with impulsivity and inappropriate behavior, a 17-year-old boy with deterioration of cognitive skills and judgment, a 5-year-old boy with complex-partial seizures, and a 6-year-old girl with obsessive-compulsive behavior. All patients had elevated serum Epstein-Barr virus titers for acute infection, with cerebrospinal fluid polymerase chain reaction positive for Epstein-Barr virus in four patients. Three children were treated with methylprednisolone with minimal improvement without changes on magnetic resonance imaging. Epstein-Barr virus encephalitis can present with chronic and insidious neurologic symptoms and should be considered in the differential diagnosis of children with acute or chronic neurologic illness of unknown etiology.

Functional brain imaging in neuropsychiatric disorders of childhood.

This review article presents a summary of the current state-of-the-art of functional brain imaging, with a primary focus on childhood neuropsychiatric disorders. Coverage is emphasized for developments that appear to be of current or potential future importance for the child neurologist and related pediatric specialist, and also from the perspective of the developmental neuroscientist. Emphasis is placed on the modalities of single photon emission computed tomography (SPECT), positron emission tomography (PET), and both "conventional" and "functional" magnetic resonance imaging, (MRI) including reference to the major new radiopharmaceutical and magnetic resonance-based imaging agents and techniques. The fundamental physicochemical processes underlying such studies are outlined, with citation of sources of more detailed information for the interested reader. A variety of imaging studies are reviewed for selected groups of childhood neuropsychiatric disorders, designed to illustrate the achievements and future promise of these imaging modalities. Areas of concentration are suggested for future imaging research in the field of childhood behavioral disorders, where these methods seem critical to improved understanding of pathogenetic mechanisms, as well as development of more effective treatment strategies.

Biotin-responsive basal ganglia disease: a novel entity.

We describe a novel, biotin-responsive basal ganglia disease in 10 patients. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia, and progresses to severe cogwheel rigidity, dystonia and quadriparesis. These symptoms disappear within a few days if biotin (5-10 mg/kg/day) is administered, and there are no neurological sequelae. They reappear within 1 month if biotin is discontinued. Patients diagnosed late, or who have had repeated episodes, suffer from residual symptoms such as paraparesis, mild mental retardation or dystonia. The numerous biochemical studies of intermediary metabolism, like the autoimmune and toxicological studies, enzyme assays including biotinidase, carboxylase and lysosomal activities, and bacterial and viral studies were all normal. The aetiology may be related to a defect in the transporter of biotin across the blood-brain barrier. The only consistent radiological abnormality was central necrosis of the head of the caudate bilaterally and complete, or partial, involvement of the putamen on brain MRI. This was present during the initial acute encephalopathy and remained unchanged during follow-up of 3-10 years. Although its aetiology is unknown, it is important to recognize this disease, since its symptoms may be reversed and the progression of its clinical course prevented simply by providing biotin.

Intraventricular interferon-alpha stops seizures in Rasmussen's encephalitis: a case report.

A 3.5-year-old girl had epilepsia partialis continua of the right side. Clinical and laboratory findings were consistent with Rasmussen's encephalitis. Treatment with high-dose methylprednisolone led to temporary control of seizures, but for 2 years, the seizures remained refractory to phenobarbital, phenytoin, lorazepam, carbamazepine, valproic acid, vigabatrin, gabapentin, and lamotrigine. A 6-week course, and later a 6-month course, of intraventricular interferon-alpha almost totally suppressed the seizures. Although moderately hemiparetic, the child has reasonable neurologic function with mild speech delay. She is receiving her third course of treatment, and seizures remain completely controlled.

Subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE), a neurodegenerative disease caused by a persistent "slow virus infection" with a mutated measles virus, is endemic in much of the developing world. Its incidence will increase in the USA, not only in immigrants, but also because of the 1988-1990 measles epidemic. This report reviews the pathogenesis, clinical and laboratory diagnosis, and future perspectives in treatment and prevention.

Subacute sclerosing panencephalitis: evaluation with CT and MR.

PURPOSE: To evaluate the progression of CT and MR changes of the brain in subacute sclerosing panencephalitis (SSPE) as a basis for assessing the effects of different types of therapy. METHODS: Fifty-two patients with SSPE were examined, 44 with MR imaging and 42 with CT of the brain on one or more occasions. A total of 92 MR and 67 CT studies were performed. RESULTS: Correlation between the clinical status and the MR findings in admission was poor. Of 20 patients with clinically advanced disease, only 8 had marked MR abnormalities; 6 had normal or almost normal findings on MR examinations. Two of 4 patients with clinically mild disease had advanced MR changes. The progression of the MR findings appeared to follow a constant pattern. The earliest pathologic finding was focal, high-T2-intensity white matter changes; later atrophic changes followed. The atrophy lagged behind the white matter changes and was thus mild when white matter changes were moderate or severe. In the most advanced stage, when the patient was in a neurovegetative state, an almost total loss of white matter had usually taken place. At this stage, the corpus callosum was also thin. Basal ganglia changes, usually involving the putamina, were seen in one third of patients and cortical gray matter changes were seen in one fourth of patients examined with MR imaging. In 2 of 20 patients, MR changes regressed in parallel with clinical improvement following therapy, but in 5 patients clinical improvement was accompanied by progression of MR changes. CONCLUSION: The progress of MR abnormalities seen in patients with SSPE seems to follow a constant pattern, but the severity of MR changes does not always correlate well with the clinical findings. Caution must therefore be used when evaluating the effects of therapy.

Familial childhood primary lateral sclerosis with associated gaze paresis.

Three children from consanguineous parents began losing the ability to walk in late infancy. Despite chronically progressive weakness leading to wheelchair dependence by adolescence and later loss of motor speech production, intellect remained preserved. Examination revealed upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal or sensory signs. In addition they exhibited a diffuse conjugate saccadic gaze paresis, especially severe on down-gaze. CT and MRI scans of brain and spinal cord, EEGs, visual and brainstem auditory evoked potentials, CSF examinations, enzyme assays for lysosomal storage diseases, blood amino acids and urine organic acids were all normal. Cortical somatosensory evoked potentials were poorly configured in two of the patients, though they had normal central conduction. EMG showed no signs of denervation. Nerve conduction studies showed normal peripheral motor and sensory conduction velocities. Transcranial magnetic stimulation of the brain elicited no motor-evoked potentials. Despite the lack of neuropathological confirmation, the clinical course and neurophysiologic data strongly support the diagnosis of a familial (autosomal recessive) primary lateral sclerosis (PLS).

Ataxia-oculomotor apraxia syndrome.

Ataxia-oculomotor apraxia is a distinct entity first comprehensively described in 1988. The features include early childhood onset of ataxia and oculomotor apraxia, mimicking ataxia telangiectasia but without the extraneurologic findings of ataxia telangiectasia. We add to the clinical description of the ataxia-oculomotor apraxia syndrome by reporting eight patients, ages 2 to 15 years, from four families, suggesting autosomal recessive inheritance, with the longest follow-up over 6 years. After initial gait deterioration, all had a nonprogressive course. We have postulated that ataxia-oculomotor apraxia should be established as a separate disease from ataxia telangiectasia or its variants not only by clinical history, examination findings, and course, but primarily by the biologic markers of normal chromosome breakage and radiation sensitivity studies. We found no increased chromosome breakage in the four patients studied and intermediate sensitivity to chronic ionizing radiation of cultured skin fibroblasts on the three patients studied. Family studies revealed an intermediate radiosensitivity from two patients, their asymptomatic parents, and a sister. The lack of chromosome breakage strongly separates ataxia-oculomotor apraxia from ataxia telangiectasia. The radiation sensitivity studies are compatible with two possibilities: (1) symptomatic ataxia telangiectasia heterozygotes, but this would be highly unusual because the degree of clinical involvement in the ataxia-oculomotor apraxia patients is not mild, as would be expected if they were heterozygotes and (2) a separable disease entity, which is the interpretation we favor.

Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.

Although ataxia-ocular motor apraxia (AOA) has been described as a disease entity mimicking ataxia telangiectasia (AT), no radiobiological studies have been carried out on cells from patients with AOA to find their possible relationship to AT. In the present study, cultured fibroblasts from three patients with AOA and their asymptomatic relatives (parents and sibs) were, therefore, compared with those from a classical AT homozygote, an AT heterozygote, and four healthy subjects for cell survival after acute and chronic irradiation. While a moderately increased cellular sensitivity (compared to normal) was observed in two AOA patients and most of their relatives, the degree of their radiosensitivity was quite different from that of the AT homozygote after both acute and chronic irradiation. One AOA patient exhibited increased cellular sensitivity similar to that of a classical AT homozygote up to 4% survival level after chronic irradiation but not after acute irradiation. A comparison of peripheral blood lymphocytes from two AOA patients, an AT homozygote, and two normal controls for spontaneous and (acute) radiation induced chromosomal breaks also failed to show any similarity between AOA and AT. These data support the notion that AOA is different from classical AT, and may represent a distinct disease entity controlled by specific gene(s), or compound heterozygotes involving different AT genes promoting the manifestation of AOA characteristics.

Experience of King Faisal Specialist Hospital and Research Center with Saudi organic acid disorders.

The Inborn Errors of Metabolism and Neurology Services of the King Faisal Specialist Hospital and Research Centre (KFSH&RC) and Armed Forces Hospital have received more than 1,500 patients suspected of having an organic acid disorder (OAD) during a period of four years. Of these, 307 patients suspected of having an organic acid disorder (OAD) during a period of four years. Of these, 307 patients, approximately 20%, had a clearly identifiable disorder. Identified OAD's constituted one-quarter of all patients diagnosed as having various types of inborn errors of metabolism during this period, in these clinical services. Prolonged follow-up was available in the majority of cases, allowing detailed clinical, neuroradiologic and neurophysiologic descriptions. Fifty patients (16%) had rare disorders by standards in the West. Approximately 25% were 'neurologic organic acidurias.' This is a new term we are introducing for OAD's manifesting primarily with neurologic signs, but without appreciable acidosis, hypoglycemia or hyperammonemia. In this special issue, we present the KFSH&RC experience with the rare disorders as individual articles. We estimate the frequency of OAD's in Saudi Arabia as 1/740 births. The increased frequency of OAD's in Saudi Arabia is probably due to increased consanguinity, since most OAD's occurred in excess in certain tribes; and due to increased surveillance and testing by our group. Saudi Arabia provides a unique opportunity for research in this area of pediatrics.