[Progressive gait difficulties secondary to a lumbar medullary dural fistula. Case report]

Introduction : Dural arteriovenous fistula with spinal drainage is a rare disease that can lead to irreversible neurological deficits if it is not treated quickly. Initial symptoms are nonspecific and may delay diagnosis. We present the case of a patient with spinal lumbar arteriovenous fistula revealed by back pain, gait disorders and urinary urgency

Case report : A 77-year-old female patient was admitted for back pain, instability when walking, and urinary urgency for the last three months. Spinal magnetic resonance imaging then spinal angiography showed a perimedullary arteriovenous fistula fed primarily by the right L3 radicular artery. The patient was treated surgically with closure of the fistula found from L2 to L5 levels. Three and a half months after the operation, there was little improvement of the paraparesis, tingling in the lower limbs and urinary urgency, despite the disappearance of the anomalies on follow-up magnetic resonance imaging

Discussion and Conclusion : Dural spinal fistulas with perimedullary venous drainage are the most frequent intraspinal arteriovenous anomalies. They are rare and often unknown. They cause the appearance of a chronic myelopathy by venous stasis and hypertension. Spinal magnetic resonance imaging supplemented with spinal cord angiography confirms the diagnosis. In the absence of treatment, evolution proceeds slowly towards a permanent paraplegia. Early diagnosis and management can avoid severe neurologic sequelae in most cases

Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy

Spinal muscular atrophy [SMA] is a common, often fatal, autosomal recessive disease leading to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The prevalence of SMA cases in the Kingdom of Saudi Arabia [KSA] is much higher than the European and North American population. Deletions or mutations in 2 genes, telomeric form of the survival motor neuron [SMN1] and the neuronal apoptosis inhibitory protein [NAIP], are known to be associated with SMA. The aim of this study is to examine the deletions or interruptions of the SMN1 and NAIP genes in Saudi patients. The study included 121 Saudi SMA patients [type I [60 patients]; type II [26 patients]; and type III [35 patients]]. The deletions or interruptions of the SMN1 and NAIP genes were detected by using polymerase chain reaction. The study was carried out at the King Fahad National Guard Hospital, Riyadh, K.S.A. between 200 and 2002. The homozygous deletions of exons 7 and 8 of the SMN1 gene were found in 94% and 87% of the patients, Exon 5 of the NAIP gene was deleted in 70%, but its deletion was more frequent in SMA type I [93%] as compared to type II [54%] and type III [43%]. Seven patients with SMA diagnosis did not show any of the above homozygous deletions. All 230 control subjects had at least one copy of both SMN1 and NAIP genes, as expected. Our results demonstrate that the deletion rate [94%] of the SMN1 gene in Saudi SMA patients is similar, irrespective of types, compared with patients of other ethnic groups. We also show that the incidence of NAIP deletion is higher in the more severe SMA cases and the dual deletion of the SMN1 and NAIP genes are more common in Saudi SMA type I patients compared with patients of other ethnic groups

Bilateral simultaneous hip fractures secondary to an epileptic seizure

A 30-year-old man sustained bilateral simultaneous displaced subcapital fractures of neck of femur during an epileptic tonic-clonic seizure. After admission to the hospital approximately 18 hours later, internal fixation of the fractures with dynamic hip screw was undertaken. Post operatively, he was managed by early motion and weight bearing on the second day. Despite the severity of the fractures and delayed surgery, satisfactory union of the fractures was noted at 6 months when bone densitometry was normal. At 3 years follow up, there was no sign of avascular necrosis of the femoral heads

Infantile spinal cord tumour presenting as hydrocephalus

Although relatively rare, the association of spinal cord tumours with hydrocephalus and increased intracranial pressure, normal pressure hydrocephalus and benign intracranial hypertension is a well-recognised phenomenon. Usually, the hydrocephalus becomes apparent or is discovered after the diagnosis of an intraspinal tumour. In rarer circumstances, hydrocephalus is the presenting feature and evidence of spinal cord dysfunction appears subsequently. In this report, we present the case of an infant who was treated for communicating hydrocephalus of undetermined aetiology. Eleven months later, a malignant astrocytoma of the cervical spinal cord was diagnosed

Deletion mutatios in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy

The deletion in the dystrophin gene has been reported for many ethnic groups, but until now the mutations in this gene have not been thoroughly investigated in Saudi patients with Duchenne muscular dystrophy [DMD] and Becker muscular dystrophy [BMD]. We examined the deletion pattern in the dystrophin gene of the Saudi patients applying multiplex-polymerase chain reaction [PCR]. The aim of this study is to describe the outcome of our initial effort to identify mutations in the dystrophin gene in a representative group of Saudi patients with DMD and BMD. Genomic deoxyribose nucleic acid was isolated from 41 patients with DMD and BMD [27 patients confirmed by muscle biopsy and 14 patients with clinical suspicion], 3 patients with limb girdle muscular dystrophy, 12 male relatives of the patients, and 5 healthy Saudi volunteers. A total of 25 exons around the deletion prone regions [hot spots] of the dystrophin gene were amplified. The study was carried out at the King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia between 2000 and 2002. The deletion of one or more exons was found in 21 of 27 DMD and BMD patients confirmed by muscle biopsy. The deletion in the gene was detected in 5 of 14 patients with DMD diagnosis, but not confirmed by dystrophin staining of muscle biopsy. No deletion in the dystrophin gene was detected in control Saudi volunteers, the limb girdle dystrophy patients, and the relatives of patients, as expected. The present study suggests that intragenic dystrophin gene deletions occur with the same frequency in Saudi patients compared with other ethnic groups. The PCR-based deletion analysis provides a reasonable first step in the diagnostic care of Saudi patients who may be afflicted with DMD and BMD

Epidemiology of alzheimer's disease

Epidemiological studies on Alzheimer's disease are difficult because the condition has an insidious onest and dose not have any specific biological or radiological marker. Available data suggest that Alzheimer's disease prevalence increases with age from less than 1% at age 60 to more than 35% at age 95. Its yearly incidence is around 1% at age 70 and 4% above 80. The total duration of the disease is about 8 years but familial cases and those with early onset are usually shorter. Apart from age, the main risk factors for the development of Alzheimer's disease are family history and genetic disorders such as trisomy 21 and abnormal genes on chromosomes 1, 14, 19 and 21. The allele E4 of apolipoprotein E [A[p]oE] gene on chromosome 19 is of particular interest in non-familial Alzheirmer's disease. On the other hand, some factors such as estrange replacement therapy, non-inflammatory drugs, cigarette smoking and the allele E2 of A[p]oE gene seem to protect against Alzheimer's disease