The role of brain perfusion SPECT in Moyamoya disease.

Moyamoya disease (MMD) is a cerebrovascular disorder involving stenosis of brain vessels. Brain perfusion SPECT in MMD demonstrates impaired perfusion in ischemic areas. We present a 6-year-old boy with MMD. The patient had numbness on the right arm and simultaneous electroencephalography changes while studying arms up on the table. To differentiate seizure and ischemic symptoms, brain perfusion SPECT studies were obtained when the patient was asymptomatic (SPECT-A) and during the symptoms-EEG changes (SPECT-B). SPECT-A showed perfusion defect on the right frontal cortex, hypoperfusion on the right parieto-occipital region and slightly increased perfusion on the left parietal cortex. SPECT-B displayed significant hyperperfusion on the left parietal cortex; hypoperfusion on the right parietal, right temporal, right parieto-occipital and left frontal cortex. Additionally, brain perfusion SPECT of the child's younger brother diagnosed with MMD showed decreased regional cerebral perfusion. Physiopathological mechanisms of our patient's SPECT findings and indications of brain perfusion SPECT in MMD were also discussed.

El papel del SPECT cerebral de perfusion en la enfermedad de moyamoya / The role of brain perfusion SPECT in moyamoya disease

La enfermedad de moyamoya (EdM) es una alteración cerebrovascular que implica la estenosis de los vasos cerebrales. La SPECT de perfusión cerebral en la EdM demuestra alteración de la perfusión en las zonas isquémicas. Presentamos el caso de un niño de 6 años con EdM que presentaba adormecimiento en el brazo derecho y alteraciones en el EEG cuando estudiaba con los brazos sobre la mesa. Para diferenciar entre crisis epiléptica y síntomas isquémicos se efectuaron estudios cuando el paciente estaba asintomático (SPECT-A) y durante los síntomas con cambios en el EEG (SPECT-B). La SPECT-A mostró defecto de perfusión frontal derecho, hipoperfusión parieto-occipital derecha y leve incremento de la perfusión en la corteza parietal izquierda. La SPECT-B mostró hiperperfusión significativa en la corteza parietal izquierda e hipoperfusión en el parietal, temporal y región parieto-occipital derechos y corteza frontal izquierda. Además, la SPECT de perfusión cerebral de un hermano menor del niño diagnosticado de EdM mostró disminución de la perfusión cerebral regional. Se discuten los mecanismos fisiopatológicos de estos hallazgos y las indicaciones de la SPECT de perfusión cerebral en la EdM(AU)

Moyamoya disease (MMD) is a cerebrovascular disorder involving stenosis of brain vessels. Brain perfusion SPECT in MMD demonstrates impaired perfusion in ischemic areas. We present a 6-year-old boy with MMD. The patient had numbness on the right arm and simultaneous electroencephalography changes while studying arms up on the table. To differentiate seizure and ischemic symptoms, brain perfusion SPECT studies were obtained when the patient was asymptomatic (SPECT-A) and during the symptoms-EEG changes (SPECT-B). SPECT-A showed perfusion defect on the right frontal cortex, hypoperfusion on the right parieto-occipital region and slightly increased perfusion on the left parietal cortex. SPECT-B displayed significant hyperperfusion on the left parietal cortex; hypoperfusion on the right parietal, right temporal, right parieto-occipital and left frontal cortex. Additionally, brain perfusion SPECT of the child's younger brother diagnosed with MMD showed decreased regional cerebral perfusion. Physiopathological mechanisms of our patient's SPECT findings and indications of brain perfusion SPECT in MMD were also discussed(AU)

A multidisciplinary approach to the management of individuals with fragile X syndrome.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet. METHODS: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments. RESULTS: The average IQ score was 49.8 +/- 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (5/22) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 3/22 (13.7%) patients and aortic annulus dilatation was present in 2/22 (9%) patients. CONCLUSIONS: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of 'high-functioning' full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.

Congenital hydrocephalus as a rare association with ligneous conjunctivitis and type I plasminogen deficiency.

Severe type I plasminogen deficiency is the underlying cause of ligneous conjunctivitis (LC). Furthermore, pseudomembranes may also be found on other mucous membranes (gastrointestinal tract, bronchial system, genital tract). In very rare cases, congenital hydrocephalus has been associated with the more severe forms of the disease and may even precede LC. The pathophysiological mechanism is unclear at present. It is advisable to look for plasminogen deficiency in patients with congenital hydrocephalus, because obstruction of ventriculoperitoneal shunts is possible when such a condition is overlooked. Here, we report a case of LC with hydrocephalus. This report reemphasizes the association of LC with hydrocephalus which is not well known.

Rubral tremor after thalamic infarction in childhood.

The occurrence of tremor after thalamic lesions is well known. Delayed rubral tremor secondary to bilateral thalamic infarction is a rare finding and has not been reported previously in childhood. We present two children with a combined resting-postural-kinetic tremor caused by bithalamic infarction. The first child was a male 14 months of age, and the second was a male 9 years of age. These children come from unrelated families. On hospital admission of the first patient, generalized seizures and routine electroencephalogram (EEG) findings with diffuse spike-wave discharges predominantly over the left frontal area were clinically observed, leading to the initial diagnosis of epilepsia partialis continua. However, clinical observation and video-EEG monitoring of the movements revealed nonepileptiform accompaniments, favoring the diagnosis of rubral tremor. In the second patient, EEG revealed no paroxysmal activity and was within normal limits for age. In both patients, cranial magnetic resonance imaging revealed ischemic lesions in thalami bilaterally but failed to reveal any mesencephalic lesion. These patients demonstrate that thalamic infarction can cause rubral tremor in childhood.

Langerhans' cell histiocytosis: report of an atypical case.

A patient is described with Langerhans' cell histiocytosis and polyneuropathy diagnosed 12 years after the development of diabetes insipidus after head trauma.

Rasmussen encephalitis in childhood.

Six patients admitted to the Department of Pediatric Neurology at Hacettepe University Children's Hospital between 1992 and 1997 with a clinical diagnosis of Rasmussen encephalitis received surgical treatment for their intractable epilepsy. MRI, SPECT and WADA tests were performed in patients with an epileptic focus demonstrated on routine or long-term video EEG monitoring. Viral studies using the PCR methodology were performed in cases with histopathological evidence of Rasmussen encephalitis. The ages of these patients ranged between 7 and 16 years, and the mean age at onset of seizures was 7.1+/-2.2 years. In four patients seizures presented as epilepsia partialis continua and were refractory to anticonvulsive drug therapy. In three cases intravenous immunoglobulin therapy yielded temporary and partial improvement in seizure control. The mean presurgical follow-up duration was 2.04+1.74 years, and early surgical intervention for epilepsy was performed in one case. The surgical approach selected for the treatment of epilepsy was resective surgery with electrocorticography. The mean postoperative follow-up duration was 32.3+17.2 months. Seizures were fully controlled in one patient, in whom surgery was performed 3 months after the seizures first started. Early surgical intervention may provide histopathological evidence for diagnosis as well as effective seizure control.

Acute disseminated encephalomyelitis in childhood: report of 10 cases.

We report 10 children with the diagnosis of acute disseminated encephalomyelitis. Diagnosis was based on clinical and radiologic findings, and after acute encephalitis was excluded by negative culture and antibody results. The most common presenting symptom was ataxia, followed by optic neuropathy, cranial nerve palsy, convulsions, motor dysfunction, and loss of consciousness. Brain magnetic resonance imaging showing bilateral symmetrical hyper-intense lesions of the same age in brain stem, subcortical white matter, thalamus, basal ganglia, or cerebellum was the mainstay of the diagnosis. The presence of a preceding event (either an infection or vaccination) was present in 8 of 10 patients. Brain computed tomographic scans were abnormal in 3 of 10, and electroencephalogram was normal in all patients. High-dose corticosteroids were given to six patients, one received low-dose steroids, and the other three had symptomatic follow-up. Those who relapsed were mainly from the symptomatic follow-up group. Only one patient (the youngest) receiving high-dose methylprednisolone relapsed. Therefore, early high-dose steroid treatment seems to be the most effective treatment in acute disseminated encephalomyelitis and can prevent relapses.

Cardiac dysrhythmia that simulates seizure disorder in two children.

Cardiac dysrhythmia can present signs and symptoms of a seizure disorder and sometimes they are clinically indistinguishable. We present two children with a presumed seizure disorder but also with an underlying and associated cardiac problem. Therefore, we suggest that both conditions must be considered concomitantly, and that each patient with a newly diagnosed seizure disorder requires both neurological and cardiological evaluation.

Neuronal migration disorders. Part I: Terminology, classification, pathophysiology, EEG and epilepsy.

Intractable epilepsies and partial epilepsies, which make up a great majority of epileptic disorders, are not better recognized and their etiologies unveiled with the help of the new imaging techniques. The development of magnetic resonance imaging (MRI) permits the accurate diagnosis while the patients are alive of the neuronal migration disorders (NMD), which constitute an important group of intractable epilepsies. Previously, NMD cases were described by neuropathologists from autopsy materials, and many of these developmental disorders were not considered compatible with prolonged survival. Cerebral malformations due to neuronal migration anomalies are described in association with motor and mental retardation, learning disabilities, microcephaly, dysmorphic features and epilepsy. Neuronal migration takes place in all parts of the central nervous system (CNS) during the shaping process of the CNS; it actually includes both the central and peripheral nervous systems. However, in common usage the meaning of "neuronal migration disorders" is restricted to the neocortex.

Neuronal migration disorders. Part II: Magnetic resonance imaging.

With the widespread use of magnetic resonance imaging (MRI), neuronal migration disorders (NMD), including lissencephaly, pachygyria, polymicrogyria, schizencephaly, unilateral hemimegalencephaly and gray matter heterotopia, are more frequently and easily diagnosed. When NMD is a diagnostic consideration, MRI should be the imaging method of choice with the high contrast between gray and white matter it provides and its high resolution multiplanar display of anatomy. Magnetic resonance imaging displays the size, configuration and distribution of cortical gyri and cortical thickness for the evaluation of possible lissencephaly, pachygyri and polymicrogyri. It will successfully demonstrate deposits of gray matter in abnormal locations when gray matter heterotopias are present. With its multiplanar imaging capability, MRI will demonstrate the cleft extending from the pial surface to the ventricular ependyma whether the lips of the cleft are fused or separate, thus providing the diagnosis of schizencephaly.

Hypothalamic hamartoma with gelastic epilepsy, precocious puberty and polydactyly.

An entity including gelastic epilepsy, precocious puberty, polydactyly and a hypothalamic hamartoma type IIa is described in a 16-year-old female patient. Polydactyly was detected at birth, she developed precocious puberty at four years of age, and gelastic epilepsy was diagnosed at age seven. The precocious puberty was successfully treated medically and her treatment was discontinued at the age of 10 years, but the gelastic seizures were difficult to control. When the patient was 11 years old, MRI revealed a hypothalamic hamartoma. The combination of these four features is very rare in the literature.

The effect of inosiplex in subacute sclerosing panencephalitis: a clinical and laboratory study.

The immunomodulatory action of inosiplex, a drug frequently used in subacute sclerosing panencephalitis (SSPE), varies according to its dose and the subjects' immune status. In order to assess its effect in children and adolescents with SSPE, inosiplex (25-50 mg/kg/day) was given to 9 patients aged 7-17 years. Their clinical and immunologic status was evaluated before and after 2 months' treatment. Lymphocyte mitogenic response decreased in 6 cases. These patients were clinically stable or improving during this period. Changes in cytotoxicity (increased in 5/6 patients) and suppressor cell function (increased in 4/8 and decreased in 4/8) were not significant nor associated with any particular clinical course. Our results suggest that inosiplex at this dose is more likely to suppress lymphocyte proliferation in SSPE and this is not due to advancing disease. Longer follow-up of clinical and laboratory findings seems to be indicated in therapeutic trials in SSPE.