Sheehan's syndrome occurs as a result of ischaemic pituitary necrosis due to severe postpartum haemorrhage. Improvements in obstetrical care have significantly reduced its incidence in developed countries, but postpartum pituitary infarction remains a common cause of hypopituitarism in developing countries. We report a case of severe postpartum haemorrhage followed by ...

Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS). Posterior microphthalmos (PM) is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements. Herein, we report two siblings with posterior microphthalmos retinopathy syndrome with postulated autosomal recessive mode of inheritance. A 13-year-old child had PM and ...

Streptococcal toxic shock syndrome is a potentially lethal condition with an increasing incidence over the last 30 years. We present the case of a 55-year-old patient with signs and symptoms of streptococcal toxic shock syndrome. This patient's presentation was unique in that it was followed by an accumulation of fluid ...

Bone cement implantation syndrome (BCIS) is a rare but potentially fatal intraoperative complication that occurs in patients undergoing cemented orthopedic surgeries. Lack of a robust definition of the syndrome due to rarity of the condition has probably contributed to under reporting of cases. We report a case of a 72-year-old ...

PURPOSE OF REVIEW: Pulmonary aspiration syndromes are a common cause of morbidity and mortality. These syndromes are often misdiagnosed and their management is frequently suboptimal. This paper reviews the clinical features and management of the most common aspiration syndromes. RECENT FINDINGS: Pulmonary aspiration syndromes refer to a group of pulmonary ...

Posterior reversible encephalopathy syndrome (PRES) in sickle cell patients has been rarely reported previously in the setting of severe crisis or uncontrolled hypertension. Here, we report a rare and unusual case of recurrent PRES in a young adult sickle cell patient without any obvious precipitating factors.

A 52-year-old female of Asian Indian origin underwent uncomplicated phacoemulsification with insertion of a foldable hydrophilic acrylic single-piece intraocular lens which resulted in good postoperative vision. Five weeks later she presented with decreased vision and examination revealed fibrosis as well as phimosis of the anterior capsular opening. Surgical capsulotomy was ...

Thrombotic thrombocytopenic purpura (TTP) is an autoimmune disorder characterised by fever, microangiopathic haemolytic anaemia, renal insufficiency, and thrombocytopenia. Neurological involvement, a prominent component of TTP, is characterised by a variety of brain lesions which include reversible cerebral oedema or magnetic resonance imaging (MRI) features of reversible posterior leukoencephalopathy syndrome (RPLS). ...

The diagnosis of endogenous Cushing's syndrome and its aetiology involved documenting the hypercotisolism and then determining whether that hypercortisolism is adrenocorticotropic hormone-dependent (ACTH-dependent) or not. Hence, following the algorithm, an undetected ACTH level points to an adrenal Cushing's while a detectable or elevated ACTH level points to either a pituitary ...

Posterior reversible encephalopathy syndrome (PRES) and venous thrombosis are frequently encountered first in the emergency setting and share some common characteristics. The clinical presentation in both entities is vague, and the brain parenchymal findings of PRES syndrome may resemble those of venous thrombosis in some ways. Both entities often occur ...

The posterior reversible encephalopathy syndrome (PRES) is characterized by patchy cortical and subcortical lesions in the distribution of the posterior circulation. The lesions are classically reversible. This syndrome has multiple etiologies, most of which cause acute hypertension. We present a case of PRES with involvement of the medulla and cervical ...

We describe a case of cerebral venous thrombosis presenting in a patient with Lane-Hamilton syndrome and coeliac disease epilepsy cerebral calcification syndrome. This is a first reported occurrence of this combination. Delayed anticoagulation with early external ventricular drain insertion for life-threatening raised intracranial pressure resulted in a successful outcome.

As seizures in the neonatal period have generally been identified only by direct clinical observation, there is frequently a lack of objectivity as to whether seizures are categorized as epilepsies or non-epilepsies. A major characteristic of neonatal seizures is electro-clinical dissociation and some electro-graphic seizures do not produce clinical symptoms. ...

There are some indications that seizure activity promotes the development of stroke-like episodes, or vice versa, in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome or other syndromic mitochondrial disorders. A 41-year-old Caucasian female with MELAS syndrome, presenting with short stature, microcytic anaemia, increased blood-sedimentation rate, myopathy, hyper-gammaglobulinaemia, ...

Syndromes from antibodies to voltage-gated potassium channels include neuromyotonia (NMT), limbic encephalitis (LE) and Morvan syndrome (MVS). There are distinct clinical features for NMT (cramps, stiffness, fasciculations, myokymia, hyperhidrosis; afterdischarges and continuous motor activity on electromyogram), LE (encephalopathy with seizures, deficient recent memory; hyponatremia, temporal lobe magnetic resonance imaging and ...

A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and ...

In PHACE syndrome, the acronym PHACE stands for the association of posterior fossa malformations, cervicofacial hemangiomas, arterial anomalies, coarctation and eye anomalies. We report our findings in four patients with this syndrome, in whom it was characterized by complex aortic coarctation that required not only preoperative echocardiographic investigation, but also ...

In the spring of 2009 a new triple-reassortant of influenza A (H1N1) virus appeared in Mexico and rapidly spread around the world, becoming a pandemic that primarily infected children and uncommonly older adults. Accompanying the pandemic were associated neurologic and muscular syndromes that affected primarily children and included febrile seizures, ...

We report two patients, the first one had benign infantile seizures (BIS) associated with gastroenteritis (BISG), followed by BIS without gastroenteritis, in the second patient BIS was followed by BISG related to anti-rotavirus vaccine. After 12 and 6 months of follow-up, both patients had normal psychomotor development. BISG may be ...

Lennox-Gastaut syndrome is an intractable epileptic encephalopathy, with most patients experiencing daily seizures despite therapy with multiple antiepileptic drugs. New treatments need to be tested to define their efficacy in this syndrome. Lacosamide is a new antiepileptic drug recently approved for the treatment of partial-onset seizures. We describe three patients ...

Even after the introduction of new antiepileptic drugs, phenobarbital continues to be largely used in the treatment of epilepsy. We report the case of a 59-year-old woman with focal seizures with secondary generalization, treated with phenobarbital with normal serum levels. After thirty days she showed Sjogren-like symptoms, which resolved after ...

We report a rare case of Alport syndrome with progressive posterior lenticonus. A 24-year-old male presented to our tertiary eye care center with history of poor vision. At initial presentation, the patient had bilateral anterior lenticonus, posterior subcapsular cataract, and renal failure. The patient was diagnosed with Alport syndrome based ...

Reading epilepsy is a rare epilepsy syndrome triggered by language related activity, in particular reading. Here we describe a patient with reflex seizures brought on specifically by reading in Arabic. The types of reading epilepsy, their typical clinical features, probable pathophysiology and management are discussed.

We report on a patient who developed capsular block syndrome (CBS) in the early postoperative period with marked myopic shift in absence of anterior dislocation of the posterior-chamber intraocular lens (PC/IOL) and iris diaphragm. Treatment with focal 6-o'-clock Nd: YAG-capsulotomy resulted in complete visual acuity restoration. To the best of ...

Benign myoclonic epilepsy of infancy is a rare idiopathic generalized epileptic syndrome occurring below the age of 3 years. Although benign outcome is presumed, some recent studies suggest less favorable outcome. A 14-year-old boy had a history of repeated episodes of myoclonic jerks of the shoulders and upper limbs in ...

Seizure disorders of the rolandic region comprise a spectrum of different epilepsy syndromes ranging from benign rolandic epilepsy to more severe seizure disorders including atypical benign partial epilepsy/pseudo-Lennox syndrome,electrical status epilepticus during sleep, and Landau-Kleffner syndrome. Centrotemporal spikes are the unifying electroencephalographic hallmark of these benign focal epilepsies, indicating a ...

Rufinamide is a new antiepileptic drug recently approved as adjunctive treatment for generalized seizures in Lennox-Gastaut syndrome. We undertook a retrospective analysis of 77 patients with refractory epilepsy and receiving rufinamide to evaluate the drug's efficacy, tolerability, safety, and dosing schedules. It appeared efficacious in diverse epilepsy syndromes, with the ...

Mutations in the gene encoding of the catalytic subunit of mtDNA polymerase gamma (POLG1) can cause typical Alpers' syndrome. Recently, a new POLG1 mutation phenotype was described, the so-called juvenile-onset Alpers' syndrome. This POLG1 mutation phenotype is characterized by refractory epilepsy with recurrent status epilepticus and episodes of epilepsia partialis ...

Panayiotopoulos syndrome (PS) is a common childhood susceptibility to autonomic seizures and status epilepticus. Despite its high prevalence, PS has been a source of significant debate. We present ictal EEG documentation of autonomic seizures and autonomic status epilepticus in six cases of PS and a review of 14 reported cases. ...

West Syndrome (WS) is a severe epileptic encephalopathy occurring in the first year of life. According the ILAE classification of epileptic seizures and epilepsy the etiology could be symptomatic or cryptogenic. Some authors identified a small group of patients (5%) with a particular good outcome, a complete recovery from seizures ...

Prader-Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11-q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilepsy. A retrospective analysis of 92 patients with PWS identified 24 (26%) with seizures. ...

Epilepsy often occurs in Rett syndrome and is considered a major problem. The aim of this study was to define the clinical features of epilepsy and the correlation between seizures and both genotype and clinical phenotype in the Rett population. One hundred sixty-five patients with Rett syndrome referred to four ...

Doose syndrome, otherwise traditionally known as myoclonic-astatic epilepsy, was first described as a unique epilepsy syndrome by Dr Hermann Doose in 1970. In 1989, the International League Against Epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed 'epilepsy with myoclonic-atonic seizures'. In this ...

To characterize very early onset symptomatic epilepsies electroclinically, to identify meaningful factors to delineate epilepsy syndromes under this category, and to test validity of the current syndromic organization of these epilepsies by the International League Against Epilepsy (ILAE). Subjects were 38 epileptic patients with seizure onset before 3 months of ...

These two brand names are too similar, while the international non-proprietary names (INNs) are clearly different: lamotrigine (an antiepileptic) and terbinafine (an antifungal drug).

Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring ...

This study attempted to elaborate the existence of a specific neurologic pattern observed in children who experienced neonatal hypoglycemia. Twenty-seven patients with seizure and history of neonatal hypoglycemia were compared with 28 children suffering from idiopathic occipital epilepsy. In both groups the most common type of seizure activities included eye ...

Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome) may present as a developmental language disturbance and the affected child may also exhibit autistic features. Landau-Kleffner is now seen as the rare and severe end of a spectrum of cognitive-behavioural symptoms that can be seen in idiopathic (genetic) focal epilepsies of childhood, the ...

A 44-year-old woman presented with focal retrograde amnesia and complaints of rapid forgetting in the absence of episodes of transient cognitive disturbance. Her MRI and 2-deoxy-2-[18F]fluoro-D-glucose positron emission tomography (FDG-PET) were normal. On standard neuropsychological tests she performed within the normal range although a test of autobiographical memory confirmed impoverished ...

In recent years, the concept of an immunological background of some types of epilepsy has been gaining an increasing number of supporters. The following article is an attempt to review the most significant studies that explore irregularities in patients with intractable epilepsy, search for and identify the immunological causal factors ...

BACKGROUND: Pediatric epilepsies are a heterogeneous group of disorders that encompass various epilepsy syndromes ranging from benign to progressive and catastrophic. The past 2 decades have seen major advancements in the appreciation of epilepsy syndromes and their underlying mechanisms. Modern neuroimaging methods have helped to identify structural pathologies and genetic ...

Fyodor Dostoevsky is a great Russian writer who had epilepsy. As a consequence, there are many references to seizure-related phenomena in his work. His epilepsy syndrome has been a focus of debate. The goal of this article is to delineate his epilepsy syndrome based on a semiological description of seizures, ...

Lennox-Gastaut Syndrome is a severe childhood epilepsy syndrome characterised by the diagnostic triad of a slow spike and wave pattern on electroencephalogram, multiple seizure types and developmental delay. Idiopathic intracranial hypertension is a syndrome characterised by raised cerebrospinal fluid pressure in the absence of an intracranial mass lesion or ventricular ...

Lennox-Gastaut syndrome is a relatively rare epilepsy syndrome that usually begins in early-mid childhood and is characterized by multiple seizure types, particularly generalized seizures, which are often resistant to antiepileptic drug medication. Rufinamide is a new antiepileptic drug approved as adjunctive therapy to treat seizures in Lennox-Gastaut syndrome in those ...

This article reports the case of a patient with partial agenesis of the corpus callosum manifested with corpus callosum syndrome together with signs of brain hemispheres dysfunction: mental impairment, epilepsy and pyramidal signs. The patient's malformation is combined with left-handedness while signs of callosal disconnection are not present. Mild cognitive ...

Late Onset Myoclonic Epilepsy in Down Syndrome (LOMEDS) is a recognized entity usually preceded by cognitive deterioration. We report two patients with LOMEDS and cognitive decline, aged 52 and 44 years. Continuous video-EEG recording showed generalised spike and slow wave complexes as an ictal correlate of the myoclonic jerks in ...

Epileptic phenomena are usually not considered a possible cause of prolonged hallucinatory states such as Charles Bonnet syndrome (CBS). A 65-year-old woman with previous right hemorrhagic strokes developed complex visual hallucinations (CVHs), featuring CBS, and delayed palinopsic phenomena, along with new neurological signs and worsening of existing deficits. Video/EEG/polygraphy monitoring ...

Parry-Romberg syndrome is characterized by progressive unilateral facial atrophy affecting subcutaneous tissue, cartilage and bone structures. Headache attacks and epilepsy are commonly associated with this syndrome but the underlying pathophysiology is still unknown. A case of a 12-year-old boy with Parry-Romberg syndrome and syringomyelia suffering from severe headache attacks and ...

OBJECTIVE: The purpose of this pictorial essay is to classify epilepsy syndromes due to inborn errors of metabolism according to age at onset and type of seizure and to show the MRI features of many of the syndromes. CONCLUSION: Epilepsy syndromes due to inborn errors of metabolism are rare, but ...

We report a case where a patient presented with generalised tonic-clonic seizures secondary to nausea, vomiting and dehydration. She had suffered a postpartum haemorrhage six months previously. On laboratory assessment hyponatraemia and low hormone concentrations suggested pituitary failure. The diagnosis was confirmed by magnetic resonance imaging of the head, which ...