The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, g...

Classic essential tremor is a clinical syndrome of action tremor in the upper limbs (at least 95 % of patients) and less commonly the head, face/jaw, voice, tongue, trunk, and lower limbs, in the absence of other neurologic signs. However, the longstanding notion that essential tremor is a monosymptomatic tremor disorder is being challenged by a growing literature describing associated disturba...

Ataxia-telangiectasia, an autosomal recessive disorder caused by defect of the ataxia-telangiectasia mutated gene, is characterized by progressive neurologic impairment with cerebellar atrophy, ocular and cutaneous telangiectasia, immunodeficiency, heightened sensitivity to ionizing radiation and susceptibility to developing lymphoreticular malignancy. Supratentorial brain abnormalities have be...

Seventy-two veterans with traumatic brain injury (TBI), posttraumatic stress disorder (PTSD), or both participated in assessment procedures to evaluate between group differences. Half the sample was randomly selected for magnetic resonance imaging (MRI). Neurologic examinations were conducted using the Neurologic Rating Scale (NRS). Neuropsychological measures included the Paced Auditory Serial...

To the Editor: Lungu et al1 published the first 2 cases of tardive dyskinesia due to aripiprazole in neuroleptic-naive subjects. Both of these subjects had tardive dystonia. One, a 19-year-old woman, had fragile X syndrome and developed her problem after 3 months of aripiprazole treatment. The other, a 56-year-old man, had no preexisting neurologic disorder and developed his movements after 18 ...

This article discusses the risk assessment of a health information system. A case study was conducted at the South Western Sydney Area Health Service to examine the potential risks of the Maternal and Infant Network (MINET) health information system using Failure Mode Effect Analysis (FMEA). FMEA was conducted by utilising safety attributes identified by the authors. Potential failure modes of ...

Issues relevant to the nervous system garnered substantial attention at the 18th Conference on Retroviruses and Opportunistic Infections. Several topics emerged as areas of importance both for informing current understanding of HIV-related neurologic disorders and their treatment, and for spurring future investigations. Measurable biomarkers of HIV-associated neurocognitive disorder (HAND) were...

Stiff-person syndrome (SPS) is a rare neurologic disorder characterized by waxing and waning muscular rigidity, stiffness and spasms. Three subtypes have been described: paraneoplastic, autoimmune and idiopathic. Rhabdomyolysis has been described in the paraneoplastic variant, but to our knowledge no case has been reported involving the autoimmune variant. We report a case report of a 50-year-o...

Cockayne syndrome (CS) is a rare genetic disorder characterized by small stature, intellectual disability, and accelerated pathologic aging. Through the Cockayne Syndrome Natural History Study, we have identified 8 cases of acute hepatic failure after metronidazole administration (8% of our cohort), 3 of which were fatal. The interval between initial administration and death was 6 to 11 days. T...

BACKGROUND Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. CASE PRESENTATION We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifest...