IMPORTANCE Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinical phenotypes. No treatment is available for these disorders. We identified 2 unrelated families, each with 2 siblings with severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of adult-onset hereditary spastic paraparesis par...

Increased intracranial pressure (IICP) is rarely seen in association with primary spinal tumors. We describe a 58-year-old man who was diagnosed with a primary spinal cord astrocytoma, who first presented with hypesthesia, followed by intracranial hypertension, papilledema and blurred vision. On first admission, he presented with hypesthesia but without paraparesis, headache or blurred vision. ...

Human T-lymphotropic virus type 1 (HTLV-1) is a persistent CD4+ T-lymphotropic retrovirus. Most HTLV-1-infected individuals remain asymptomatic, but a proportion develop adult T cell leukemia or inflammatory disease. It is not fully understood how HTLV-1 persists despite a strong immune response or what determines the risk of HTLV-1-associated diseases. Until recently, it has been difficult to ...

A 39-year-old man with a 4-month history of transient pins and needles sensations occurring below the waist while walking and difficulty walking presented to our outpatient clinic. He had an approximate 1-year history of bilateral hearing loss, the etiology of which was unknown. His symptoms had been progressive, and there was no significant family history. He demonstrated a spastic gait and re...

A 53-year-old woman with tropical spastic paraparesis (also called human T-lymphotropic virus–associated myelopathy) reported several months of worsening weakness of the legs and feet, which had led to her use of a wheelchair. On examination, she was found to have severe spasticity and weakness of both legs and feet, bilateral Babinski sign, and bilateral patellar clonus (see video). The result...

UNLABELLED X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene that result in accumulation of very long chain fatty acids (VLCFAs) in various tissues. This leads to demyelination in the CNS and impaired steroidogenesis in the adrenal cortex and testes. A 57-year-old gentleman was referred for the assessment of bilateral gynaecomastia of 6 mont...

Traumatic extradural arachnoid cyst is a rare entity. However, late appearance of paraparesis due to formation of an extradural arachnoid cyst as a sequel of brachial plexus injury is extremely rare and the literature regarding this issue is scarce revealing only 11 cases. Herein, we report a patient with delayed progressive spastic paraparesis appearing after a multilevel brachial plexus root ...

We report a case of a lady with systemic symptoms, a spastic paraparesis and an atrophic rash, whose eventual unifying diagnosis was unusual in that most cases are diagnosed postmortem.

A patient developed paraparesis and signs of meningeal irritation spontaneously while on anticoagulant therapy. At autopsy, a subdural hematoma of the thoracic cord and evidence of widespread subarachnoid hemorrhage were found. The possible mechanism for these combined hemorrhages is discussed.

We describe a case of congenital non-functional adrenocortical carcinoma in a male infant who presented with recurrent pneumonia, paraparesis and sclerotic skeletal metastasis. To the best of our knowledge such presentation has never been reported.