Postpartum cerebral angiopathy is a well-recognised subgroup of the reversible vasoconstriction syndromes. Increasingly described is a delay between clinical onset and angiographic changes. We report a patient who presented 19days postpartum with severe thunderclap headaches, vertigo and a seizure. The clinical syndrome preceded evidence of extensive vasoconstriction on MRA imaging ...

Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seizures, but many of the described ...

A multidisciplinary approach is mandatory in defining the cause and directing the treatment of childhood urinary incontinence. Both pediatricians and pediatric urologists should carefully evaluate a child with incontinence for possible overlapping etiologies, before labeling him or her as a refractory case. We report an epileptic boy with dysfunctional elimination ...

Severe cases of pediatric tramadol intoxication are rarely reported. We report on serotonin syndrome after tramadol intoxication. An 8-month-old girl developed extreme agitation after accidentally ingesting a tablet of her father's medication (Monocrixo LP (Thérabel Lucien Pharma, Levallois Perret, France), 200 mg tramadol). Unable to sleep, she was admitted the ...

We report a 28-year-old woman with O157 enterohemorrhagic colitis-associated hemolytic uremic syndrome in whom seizures and transient hemiparesis developed on the 12th day after admission to hospital. Her subsequent recovery was characterized by improvements in renal function and platelet count. The patient recovered after treatment with steroid pulse and plasma ...

Most childhood seizures can be controlled by the appropriate antiepileptic drugs. When seizures remain intractable in a normally developing child with an intact neurologic examination, it is usually possible to identify a clear reason, and the physician, like a detective, needs to investigate and reveal it. In this article we ...

Mutations in the ARX gene cause both nonsyndromic and several forms of syndromic mental retardation (MR). Two polyalanine (polyA) expansions of ARX are recurrent mutations. The most common one, the c.428_451dup, is associated with a wide spectrum of phenotypes, ranging from the most severe West syndrome to Partington syndrome (MR ...

Relapsing herpes simplex encephalitis (HSE) rarely occurs after acyclovir treatment. We treated a patient with relapsing HSE of the contralateral temporal lobe, resulting in Klüver-Bucy syndrome, after a full-dose acyclovir treatment. This case suggests that physicians should consider sudden behavioral and emotional changes after HSE treatment as a possible indication ...

We describe a 2-year-old boy born to healthy, consanguineous parents. He had craniofacial asymmetry with left frontal bossing, midface hypoplasia, proptosis, and low-set ears. In addition, he had curly, light hair, and oval hypomelanotic patches in the abdomen, lower limbs and back and one hyperpigmented patch in the groin without ...

Posterior reversible encephalopathy syndrome is a clinicoradiologic entity that may present with headaches, altered mental status, seizures and visual loss as well as specific neuroimaging findings. We report a case of a 74-year-old woman receiving adjuvant gemcitabine chemotherapy as monotherapy for a stage IIa pancreatic adenocarcinoma, who developed posterior reversible ...

A six-week-old girl presented with a segmental, focally atrophic, vascular patch in the diaper area, present since birth. It had undergone minimal proliferation, but had ulcerated. Evaluation to rule out LUMBAR (Lower body hemangioma/Lipoma or other cutaneous anomalies, Urogenital anomalies, Myelopathy, Bony deformities, Anorectal/Arterial anomalies, and Renal anomalies) syndrome, which ...

BACKGROUND: HELLP syndrome is associated with high morbidity and mortality which is attributed most commonly to intracranial hemorrhage (ICH) and/or stroke. The presence of other complications further worsens the prognosis. METHODS: We present a rare case of HELLP syndrome which presented with ICH and further complicated by seizures, disseminated intravascular ...

Aicardi syndrome (AS) is a rare congenital syndrome and is characterized by the triad of infantile spasm, agenesis of the corpus callosum, and anomaly of chorioretinal lacunae. We here report a case of a patient with AS under general anesthesia. Although there is no report in which muscle relaxants were ...

Introduction: Stroke-like migraine attacks after radiation therapy, or SMART syndrome, is characterised by migraine-like headache with or without aura, transient neurological dysfunction, including seizures, and gyriform enhancement on magnetic resonance imaging (MRI) which resolves over a period of weeks. Detailed neuropsychological characterisation in SMART syndrome is lacking and there are ...

Dravet Syndrome (DS), also known as Severe Myoclonic Epilepsy in Infancy (SMEI) is a rare, primarily genetic disorder which develops in infancy. The characteristics of DS are frequent, prolonged, primarily generalized seizures which occur initially with fever and eventually evolve to multiple afebrile seizure types such as myoclonic, atypical absence, ...

Ohtahara syndrome is a rare epileptic encephalopathy in infants; the underlying etiology is generally thought to be structural brain malformations. The authors present a rare case of this type of epileptic encephalopathy in which a treatable metabolic condition such as biotinidase deficiency was suspected and diagnosed, and early institution of ...

We report acute encephalopathy in two cases with severe congenital hydrocephalus. Case 1 was a 23-month-old girl, born at of 36weeks gestation and delivered by cesarean section due to congenital hydrocephalus. Magnetic resonance imaging (MRI) showed prominent ventricular dilation associated with hydrocephalus, Dandy-Walker variant and cortical malformation. The blood test ...

We report a female patient with ichthyosis, epilepsy, mental retardation, hypergonadotrophic hypogonadism, polyneuropathy, and cranial dysmorphisms. This clinical picture may satisfy the main diagnostic criteria that characterize Rud syndrome (RS), a rare neurocutaneous disease. The patient underwent extensive clinical evaluation, neurophysiological studies (wakefulness and sleep EEG, EMG), dermatological and endocrinological ...

Posterior Reversible Encephalopathy Syndrome (PRES) is a clinicoradiologic syndrome characterised clinically by headaches, altered consciousness, visual disturbances and seizures and radiological changes which can resolve. However left untreated it can be fatal and not all cases are reversible. It can occur in many settings, the most common being hypertensive crisis. ...

Posterior Reversible Encephalopathy Syndrome (PRES) is a syndrome comprising headache, altered mentation, and seizures, associated with neuroimaging findings characteristic of subcortical edema in the posterior regions. It is usually seen in patients treated with immunosuppressants, in renal failure, or with eclampsia. Recurrent episodes of PRES in the same patient are ...

Epilepsy is frequent in fragile X syndrome (FXS), the most common cause of inherited mental retardation. Status epilepticus (SE), however, seems exceptional in FXS, particularly as an initial epileptic manifestation. To our knowledge, SE was reported in only four FXS patients. We report the clinical features and electroencephalography (EEG) findings ...

We performed STXBP1 mutation analyses in 86 patients with various types of epilepsies, including 10 patients with OS, 43 with West syndrome, 2 with Lennox-Gastaut syndrome, 12 with symptomatic generalized epilepsy, 14 with symptomatic partial epilepsy, and 5 with other undetermined types of epilepsy. In all patients, the etiology was ...

Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic condition characterized by reversible vasogenic edema on neuroimaging. It is associated with various neurological manifestations, including headaches, vomiting, seizures, visual loss, altered mental status and focal neurological deficits. PRES mainly occurs in the setting of eclampsia, hypertension, uremia, malignancy, transplantation, autoimmune diseases ...

This article is part of the Guidelines for Epilepsy management in India. This article reviews the classification systems used for epileptic seizures and epilepsy and present the recommendations based on current evidence. At present, epilepsy is classified according to seizure type and epilepsy syndrome using the universally accepted International League ...

What is known and Objective:  Posterior reversible encephalopathy syndrome (PRES) is described clinically as an acute neurologic deterioration characterized by headache, change in mental status and seizures. Although the mechanism(s) for this syndrome is not fully understood, PRES results from vasogenic edema in areas of the brain supplied by the ...

Lenalidomide (REVLIMID®) CC-5013 (Celgene, NJ, USA) is approved, in both the USA and Europe, in combination with dexamethasone for the treatment of multiple myeloma patients who have received at least one prior therapy, and is rapidly being accepted worldwide for this condition. Lenalidomide is also approved in the USA and ...

We describe a case of bouveret's syndrome associated with carcinoma gall bladder. This is probably the second reported case of such an association. Computed tomography detected the calculus in the duodenum but endoscopy could not retrieve it. Open gastrojejunostomy and stone retrieval was done.

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome manifesting as hamartomatous growths in multiple organs. We present two cases of patients with TSC and associated facial angiofibromata treated with topical and oral rapamycin and discuss the role for rapamycin in the treatment of these disfiguring lesions. Our ...

Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, ...

A 15-year-old female presented with seizures, right-sided hemiparesis, hemiatrophy of the right side of the body and mental retardation. MRI brain revealed characteristic features diagnostic of congenital type of cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome.

Klippel-Trenaunay syndrome and Sturge-Weber syndrome are rare disorders with neurologic and cutaneous signs of vascular origin. Phakomatosis pigmentovascularis represents the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. We describe a case with features suggestive of overlap between them. A ten-month-old boy presented with seizures, developmental delay, ...

This report describes a 7-year-old boy with multiple endocrine neoplasia type 2B who presented to the ophthalmology department because of peripheral corneal changes. In addition to prominent corneal nerves and eyelid neuromas, the patient was found to have substantial corneoscleral limbal thickening with corneal neovascularization.

PURPOSE: To report a masquerade syndrome secondary to multiple myeloma iris infiltration. DESIGN: Observational case report. METHODS: A 74-year-old Caucasian woman presenting with unilateral hypertensive uveitis and past medical history significant for multiple myeloma underwent aqueous cytology and a trabeculectomy with iridectomy. RESULTS: Cytology revealed atypical plasma cells in the ...

Melkersson-Rosenthal syndrome (MRS) is an uncommon, complex neuromucocutaneous disorder characterized by recurrent orofacial oedema, facial palsy and fissured tongue. Complete MRS is uncommon. A case of complete MRS with multiple cranial nerve palsies is reported.

In most patients with multiple sclerosis, the disease initiates with a first attack or clinically isolated syndrome. At this phase, magnetic resonance imaging is an important predictor of conversion to multiple sclerosis. With the exception of oligoclonal bands, the role of other biomarkers in patients with clinically isolated syndrome is ...

A 77-year-old man developed cerebral hyperperfusion syndrome with temporal deterioration of consciousness and worsening of left hemiparesis on the 6(th) postoperative day following superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis for right M(1) occlusion. Electroencephalography (EEG) revealed frequent ictal discharges in the right hemisphere, although convulsive seizures were not apparent. ...

The H syndrome is a recently defined autosomal recessive genodermatosis caused by mutations in the nucleoside transporter hENT3. It is characterized by cutaneous changes of progressive sclerosis, hyperpigmentation, and hypertrichosis that follow a specific pattern and are associated with multiple systemic manifestations. A case is presented and a brief review ...

Aicardi syndrome is characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. The authors describe the case of a girl with chorioretinal lacunae, seizures, and cerebral cyst, but a normal corpus callosum. Incomplete forms of Aicardi syndrome are reported in the literature, but typical choroidal lacunae are ...

The development of autoimmune disease after autologous stem cell transplantation (ASCT) is very rare in multiple myeloma (MM). We describe the first case of Evans syndrome after ASCT for MM. A 60-year-old man with MM received ASCT and subsequently developed Evans syndrome following two febrile episodes. The syndrome was refractory ...

Lipedema is an underdiagnosed syndrome of unclear etiology, characterized by symmetric painful enlargement of the buttocks and lower extremities, which spares the feet. This enlargement is caused by the deposition of adipose tissue. It was first described by Allen and Hines in 1940, who observed that it had a female ...

Leser-Trélat syndrome is characterized by the eruptive appearance of multiple seborrheic keratoses in association with underlying malignant disease. Usually, the sign of Leser-Trélat is associated with adenocarcinoma, most frequently of the colon, breast, or stomach, but also of the lung, kidney, liver, and pancreas. Herein, we present a case that ...

It is proposed that gut-liver-lung axis plays an important role in the pathophysiologic development of the critical illness, and it induces excessive inflammatory response in vivo and multiple organ dysfunction syndrome. The mechanisms of therapeutic effects of rhubarb on critical patients are studied based on the theory of Chinese traditional ...

the pharmacology, pharmacokinetics, pharmacodynamics, clinical utility, adverse effects, dosage, and cost of lenalidomide are reviewed. lenalidomide is a thalidomide analogue approved for treatment of myelodysplastic syndromes (MDS) associated with a cytogenetic 5q deletion. In combination with dexamethasone, lenalidomide has been approved by the FDA in the United States for the ...

AIM: To determine the extent to which the use of intravenous human immunoglobulin for neurological conditions complied with the guidelines of the Australian Health Minister's Advisory Council. METHODS: Patients treated with intravenous immunoglobulin in Otago over a 5.5-year period were identified from the records of the New Zealand Blood Service ...

We describe a patient presenting with the rapid onset of incomplete Wallenberg syndrome (WS) as the initial clinical manifestation of multiple sclerosis (MS). This patient was initially diagnosed with acute ischaemic lateral medullary syndrome, but further assessment led to the diagnosis of definite MS. Our report aims to highlight the ...

Multiple endocrine neoplasia syndrome type 1 (MEN-1) consists of endocrine tumors of the parathyroid, the endocrine pancreas-duodenum, and the pituitary. Surveillance and screening for the endocrinopathies is recommended in gene carriers. Surgery for MEN-1-related hyperparathyroidism is generally performed as radical subtotal parathyroidectomy, because less surgery is likely to result in ...

A genome-wide association study has identified the R92Q variant of the TNFRSF1A gene as a new susceptibility locus for multiple sclerosis. This locus is of special interest because the R92Q substitution was previously detected in a group of multiple sclerosis patients who had additional symptoms compatible with the autoinflammatory syndrome ...

OBJECTIVE: To describe the clinical, laboratory, and radiological features of Primary Sjogren's syndrome (PSS) with central nervous system (CNS) involvement. METHODS: A retrospective case series of 12 female patients with PSS and CNS involvement at King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia from 1991-2009. The ...

Occurrence of multiple sclerosis (MS) in patients with ankylosing spondylitis (AS) has been reported in isolated cases. We describe a white 33-year-old male with a definite familial HLAB27 positive AS and MS-like syndrome. The patient developed acute onset of gait difficulty, postural unsteadiness, dysarthria and right side weakness that resolved ...

We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis ...