Xantomatosis cerebrotendinosa. A Propósito de un Caso / Cerebrotendinous xanthomatosis. A case report

La xantomatosis cerebrotendinosa (XCT) es un raro desorden del almacenamiento de los lípidos, que se transmite en forma autosómica recesiva y se caracteriza por el depósito de colesterol y colestanol en diferentes tejidos, con preferencia por los tendones, los cristalinos y el sistema nervioso central. El diagnóstico de la enfermedad se confirma con la presencia de β–colestanol en sangre y de alcoholes biliares en orina. Obedece a una mutación del gen CYP27A1 (responsable de la síntesis de la enzima esterol 27-hidrolasa) que mapea en el brazo largo del cromosoma 2. Se manifiesta clínicamente por un deterioro neurológico progresivo, además de la presencia de xantomas tendinosos, cataratas juveniles, arterioesclerosis y diarrea crónica. Las alteraciones aparecen en las primeras dos décadas de la vida, pero el diagnóstico definitivo suele hacerse tardíamente (entre la tercera y la cuarta décadas). La terapéutica consiste en la administración de ácido quenodesoxicólico asociado a pravastatina o simvastatina. El tratamiento temprano y prolongado podría detener la progresión de la enfermedad. Se presenta un paciente de 40 años con esta enfermedad y se hace una descripción actualizada de la misma.

Neurobrucellosis: a rare cause for spastic paraparesis

A 41 year old man presented to the outpatient department with a three month history of difficulty in walking. He also had a history of positive sensory symptoms in the form of pins and needle sensation mostly below the waist. His symptoms had been progressive and there was no significant family history. He demonstrated a spastic gait and could only walk with assistance and support. DTR were hypertonic and sensory deficit was observed below twelfth dorsal vertebra. Sphincter abnormalities were present. Plantars were extensor bilaterally. Cerebral and spinal MRI with contrast was unremarkable. Brucella antigen titers were significantly high. CSF report was consistent with neurobrucellosis. After detailed analysis of his history, clinical picture and investigations the diagnosis of neurobrucellosis was made. Combined antimicrobial therapy was started, his neurologic condition gradually improved and he was able to walk without help after three months of treatment. Hence this case showed that neurobrucellosis may present as acquired progressive spastic paraparesis and it should always be borne in mind in patients with spastic paraparesis.

Hepatic myelopathy as a presenting neurological complication in patients with cirrhosis and spontaneous splenorenal shunt / 대한간학회지

Hepatic myelopathy is a rare complication of chronic liver disease that is associated with extensive portosystemic shunts. The main clinical feature of hepatic myelopathy is progressive spastic paraparesis in the absence of sensory or sphincter impairment. Early and accurate diagnosis of hepatic myelopathy is important because patients with early stages of the disease can fully recover following liver transplantation. Motor-evoked potential studies may be suitable for the early diagnosis of hepatic myelopathy, even in patients with preclinical stages of the disease. Here we describe two patients who presented with spastic paraparesis associated with a spontaneous splenorenal shunt and without any previous episode of hepatic encephalopathy. One patient experienced improved neurologic symptoms after liver transplantation, whereas the other patient only received medical treatment, which did not prevent the progression of spastic paraparesis.

Hepatic myelopathy: a rare complication following extrahepatic portal vein occlusion and lienorenal shunt.

A 19-year-old gentleman presented with slowly progressive spastic paraparesis, 2 years after the therapeutic lienorenal shunt for portal hypertension secondary to cirrhosis and portal vein occlusion. After 2 years of initial evaluation, the motor functions had not worsened further. He did not have any obvious clinical or EEG features of hepatic encephalopathy. Other causes for myelopathy were ruled out. Contribution of portal vein occlusion to portosystemic shunting has not been reported previously in patients with 'hepatic myelopathy.' This uncommon complication needs to be considered in patients with shunt surgery for relieving portal hypertension.

Basilar impression associated with impacted cisterna magna, spastic paraparesis and distress of balance: case report / Impressão basilar associada com cisterna magna impactada, paraparesia espástica e distúrbios do equilíbrio: relato de caso

We report on a 48 years-old man with basilar impression without syringohydromyelia, in which the cisterna magna was impacted by the cerebellar tonsils. Six months after posterior fossa decompression there was the disappearance of nuchal rigidity, vertigo, spastic paraparesis and improvement of balance. Nevertheless hyperreflexia and diminished pallesthesia of the lower limbs persisted.

O presente relato descreve um homem de 48 anos com impressão basilar, sem siringo-hidromielia, no qual a cisterna magna se achava impactada pelas tonsilas cerebelares. O quadro clínico era caracterizado, especialmente, por paraparesia espástica. Seis meses após a descompressão da fossa posterior houve regressão da rigidez de nuca, vertigem, paraparesia espástica inicialmente observadas e melhora do equilíbrio. A hiperreflexia e a hipopalestesia persistiram nos membros inferiores.

Impacted cisterna magna without syringomyelia associated with spastic paraparesis: case report / Cisterna magna impactada sem siringomielia associada com paraparesia espástica: relato de caso

We report on a 49 year old man with impacted cisterna magna without the presence of syringohydromyelie (SM). The clinical picture was characterized by spastic paraparesis. Magnetic resonance imaging depicted a cisterna magna filled by the cerebellar tonsils. Six months after osteodural-neural decompression of the posterior fossa there was resolution of neurological symptoms and signs with the exception of hyperactive patellar and Achilles reflexes.

Hans Chiari (1891, 1895) descreveu 4 tipos de anomalias cerebelares que, ulteriormente, foram denominadas de malformação de Chiari (MC). Iskandar et al. (1998) relataram 5 casos de hidrosiringomielia (SM) sem herniação rombencefálica, nos quais as tonsilas cerebelares preenchiam a cisterna magna. Todos os casos melhoraram após a descompressão da fossa posterior com redução do tamanho da cavidade siringomiélica. Relatamos o caso de paciente de 49 anos com cisterna magna impactada sem a presença de siringo-hidromielia (SM). O quadro clínico caracterizava-se por paraparesia espástica. A ressonância magnética evidenciou a cisterna magna preenchida pelas tonsilas cerebelares. Seis meses após a descompressão osteodural-neural da fossa posterior, houve resolução dos sintomas e sinais neurológicos, com exceção da hiperatividade dos reflexos patelares e aquileus.

Paraparesia espástica progresiva idiopática HTLV-I seronegativa: estudio clínico y neurofisiológico de las manifestaciones sensitivas / HTLV-I seronegative idiopathic progressive spastic paraparesis: clinical and neurophysiological study of the sensory features

Background: HTLV-I associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a defined entity. However, there are many patients not well characterized with a similar clinical picture who are HTLV-I seronegative. Objective: Clinical and neurophysiological description of patients with HTLV-I seronegative idiopathic paraparesia. Patients and Methods: Seventeen patients (4 women and 13 men aged 24-67 years, average 52.3) were evaluated including clinical assessment, vibratory sensory analysis, quantitative somatosensory thermotest (QST), somatosensory evoked potentials (SSEPs), electromyography (EMG) and motor and sensory nerve conductions. Results: In addition to the spastic paraparesis, 3 (17.6 percent) patients had pseudobulbar symptoms. Ten (58.8 percent) patients had a spastic gait but could walk unaided, 6 (35.2 percent) needed support and 1 patient could not walk. Bladder dysfunction was found in 10 (58.8) patients and sensory symptoms in 7 (41.1 percent). There was mild distal impairment of vibration and position sense, distal tactile and pinprick hypoesthesia in 4 (23.4 percent) patients. Tibial SSEPs were abnormal in 11 (64.7 percent). Nerve conduction studies and EMG were normal. QST showed cold hypoesthesia in 14 (82.4 percent) patients. Warm sensation and heat pain appeared unimpaired. Conclusions: All sensory abnormalities found were restricted to sensations carried by myelinated (A beta and A delta) channels. Sensory and motor abnormalities are similar to HAM/TSP patients suggesting a common pathogenesis