BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) is caused by dysregulated complement activation. A humanised anti-C5 monoclonal antibody has recently become available for treatment of this condition CASE-DIAGNOSIS/TREATMENT: We present the first description of an infant with an activating mutation of complement factor B successfully treated with eculizumab. On standard doses ...

BACKGROUND: Dermoscopic screening facilitates early detection of melanoma and is recommended in patients with multiple or atypical nevi. OBJECTIVES: To investigate whether dermoscopic features of acquired melanocytic nevi differ between six body sites (neck, axilla, pectoral area, shoulders, buttocks, legs) and the trunk. METHODS AND MATERIALS: One hundred six patients ...

We present the case of an 18-year-old girl with a scoliosis (long C-shaped curve) in association with an atypical Rett's syndrome. In order to attain a full correction and to provide her with adequate posture and sitting balance, segmental instrumentation was utilised from the high thoracic spine to the pelvis. ...

We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of ...

Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive facial features, and developmental delay, arises from mutations and deletions of the NSD1 gene at 5q35.3. Sixteen NSD1 intragenic deletions (including one in a mosaic condition) and one partial duplication have been reported in patients with Sotos syndrome. Here, we describe ...

OBJECTIVE: to determine the prevalence of metabolic syndrome among schizophrenia patients receiving monotherapy antipsychotic in Malaysia. METHOD: A cross-sectional study was conducted at multiple centres between June 2008 and September 2011. Two hundred and five patients who fulfilled the DSM IV-TR diagnostic criteria for schizophrenia and who had been on ...

Background:Yellow nail syndrome (YNS) is a rare clinical entity of unknown etiology that is characterized by a triad of yellow nails, respiratory manifestations, and lymphedema. The condition appears in the mid- to later years of life and only rarely in childhood. We describe a rare case of YNS with an ...

Atypical teratoid rhabdoid tumor (ATRT) patients display a dismal median overall survival of less than 1 year. A consistent fraction of cases carries de-novo SMARCB1/INI1 constitutional mutations in the setting of the "rhabdoid tumor predisposition syndrome" and the outcome is worst in infant syndromic ATRT patients. We here describe a ...

The Stevens-Johnson syndrome (SJS) classically involves a targetoid skin rash and the association of the oral mucosa, genitals, and conjunctivae. Recently, there have been several documentations of an incomplete presentation of this syndrome, without the typical rash, usually associated with the mycoplasma pneumoniae infection. Our case illustrates that this important ...

ABSTRACT: The RUNX2 transcription factor regulates osteoblast differentiation. Its absence, as with cleidocranial dysplasia, results in deficient bone formation. However, its excess seems to follow a dose response of over ossification. RUNX2 duplications (3 copies) are exceedingly rare but have been reported to cause craniosynostosis. There are no existing reports ...

An 18 year old male diagnosed as a case of bipolar affective disorder (BPAD), developed neuroleptic malignant syndrome (NMS) following treatment with olanzapine (20 mg per day), an atypical antipsychotic drug. NMS is usually seen with typical antipsychotic drugs. The patient was diagnosed as a case of NMS, offending agent ...

Introduction: This study aimed to determine the prevalence of metabolic syndrome and risk of coronary heart disease (CHD) in patients with schizophrenia receiving antipsychotics in Malaysia. Methods: This cross-sectional study, conducted at multiple centres, involved 270 patients who fulfilled the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-TR diagnostic criteria ...

A novel type of encephalomyelitis was first described as chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) in 2010 and few additional patients were reported since then. Partially due to its unknown aetiology and a lack of pathognomonic features some have suggested that CLIPPERS may not represent ...

Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true ...

BACKGROUND: DiGeorge syndrome is a congenital malformation characterized by variable defects of the thymus, heart and parathyroid glands. Athymic patients are classified as exhibiting complete DiGeorge syndrome. Some of these patients may also exhibit oligoclonal T-cell expansion, generalized rash and lymphadenopathy at some point after birth. This rare condition is ...

BACKGROUND: Rituximab, an anti-CD20 antibody that targets B cells, is a promising agent against steroid-dependent and steroid-resistant nephrotic syndrome in children. CASE-DIAGNOSIS/TREATMENT: We report a 3-year-old boy who presented with atypical Pneumocystis jiroveci pneumonia (PCP) following administration of rituximab for refractory nephrotic syndrome. He had received cyclosporine and daily prednisolone ...

We evaluated prevalence and risk factors for metabolic syndrome in inpatients treated with antipsychotics, with or without other psychotropic drugs. Although the literature on metabolic syndrome in psychiatry has expanded in recent years, we seek to elucidate some of the remaining gaps by examining a severely and chronically ill population ...

Complement is a major innate immune surveillance system. One of its most important regulators is the plasma protein factor H (FH). FH inactivation by mutations or by autoantibodies is associated with a thrombotic microangiopathy disease, atypical hemolytic uremic syndrome. In this study, we report the characterization of blood samples from ...

  Cryopyrin-associated periodic syndromes (CAPS) are characterized by apparently unprovoked attacks of fever, rashes, and musculoskeletal and sensorineural inflammation accompanied by high acute-phase reactants. Excessive interleukin-1 (IL-1) signaling appears to be a constant feature in the pathomechanism of the disease, driven by a gain-of-function mutation in the NLRP3 gene. Herein, ...

PURPOSE OF THE REVIEW: Inherited autoinflammatory syndromes are conditions caused by mutations of proteins playing a pivotal role in the regulation of the innate immunity leading to an uncontrolled inflammation. The understanding of the molecular pathways involved in these disorders has shed a new light on the pattern of activation ...

Rabbit syndrome is an antipsychotic-induced rhythmic motion of the mouth and lips, resembling the chewing motion of a rabbit. The motion consists of vertical movement; the tongue is not involved. The reported prevalence of rabbit syndrome ranges from 2.3% to 4.4% of patients treated with typical antipsychotic drugs. There have ...

Interleukin (IL) -1 is a pivotal proinflammatory cytokine consisting of two molecular species, IL-1α and IL-1β. Anakinra (Kineret), a recombinant human IL -1 receptor antagonist, is regarded as a biological agent which blocks the inflammatory effects of IL-1. The aim of this review was to search the literatures and summarizes ...

To review evidence of chronic antipsychotic medication and the association with metabolic syndrome in mentally ill patients. This evidence was used to analyse a cohort of patients with severe mental illness and to deduce a correlation between the prevalence of metabolic syndrome and their dose regimens. Twenty-four male patients undergoing ...

Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary retinopathy, and cardiac conduction abnormalities. So far, only a single case has been reported where a patient with KSS had a normal ...

Hypothyroidism can have diverse neurological manifestations. Myopathy may rarely be the sole manifestation of autoimmune thyroiditis. We hereby report an atypical manifestation of severe hypothyroidism in a middle-aged woman with childhood onset of paralytic polio involving her right leg presenting with a recent onset of increased weakness in the right ...

Meckel syndrome is a lethal autosomal recessive disorder characterized by the triad of cystic renal dysplasia, occipital encephalocele, or other anomaly of the central nervous system and post-axial polydactyly. Malformation of the ductal plate is an integral component of Meckel syndrome. Ductal plate malformations include congenital hepatic fibrosis, biliary hamartoma, ...

Atypical hemolytic uremic syndrome (HUS) is a heterogeneous group of disorders, with an unexplained pathogenesis. We report here with an interesting case of a 6 years old male child presenting with atypical feature of HUS and bone marrow trilineage myelodysplasia.

Cowden syndrome (CS) is a rare, autosomal dominant inherited disorder associated with multiple benign and malignant neoplasms, including breast cancer. Prophylactic resection of susceptible organs remains controversial. We briefly describe the syndrome and review management of the risk of CS-associated malignancies. Three cases of bilateral risk-reducing mastectomy and immediate breast ...

Rhabdomyosarcoma (RMS), the most common pediatric soft tissue sarcoma, accounts for 3% of childhood malignancies. Multiple Endocrine Neoplasia (MEN) type 2A is an autosomal dominant syndrome associated with near universal development of medullary thyroid carcinoma. We describe a previously unreported association of MEN-2A with metastatic alveolar RMS and review the ...

Catatonia has been rediscovered over the last 2 decades as a unique syndrome that consists of specific motor signs with a characteristic and uniform response to benzodiazepines and electroconvulsive therapy. Further inquiry into its developmental, environmental, psychological, and biological underpinnings is warranted. In this review, medical catatonia models of motor ...

Patients with Wiedemann-Beckwith syndrome (WBS, MIM 130650), a congenital overgrowth syndrome, have a known increased tumor risk especially for embryonic tumors. WBS belongs to the "imprinting" syndromes caused by overexpression of IGF2 and/or loss of CDKN1C on chromosome 11p15.5. A 13-year-old boy with WBS developed a spitzoid malignant melanoma (Clark ...

Many inherited skin conditions are associated with underlying malignancies. The astute clinician will be able to recognize many of these cutaneous findings. The identification of these genetic syndromes with cutaneous findings, or genodermatoses, may allow early recognition of internal malignancies and the extension of these patients' life expectancy. Several of ...

Recent medical advances have improved the understanding, diagnosis, and treatment of paraneoplastic syndromes. These disorders arise from tumor secretion of hormones, peptides, or cytokines or from immune cross-reactivity between malignant and normal tissues. Paraneoplastic syndromes may affect diverse organ systems, most notably the endocrine, neurologic, dermatologic, rheumatologic, and hematologic systems. ...

We report a case of severe neuroleptic malignant syndrome developing in a 28-year-old female patient following deliberate self-poisoning with atypical antipsychotic drugs and serotonin reuptake inhibitors. Because of an increasing loss of consciousness she was rapidly transferred to an Intensive Care Unit. Following this, she became progressively febrile associated with ...

Remitting seronegative symmetrical synovitis with pitting oedema (RS3PE) of the dorsum of the hands and/or feet can be observed in different inflammatory rheumatic diseases as well as in haematological and solid malignancies. McCarty et al, described this syndrome for the first time more than twenty years ago. Underlying malignancy should ...

Hyperthermia is frequently seen in the intensive care setting and is associated with significant morbidity and mortality. It is often initially misdiagnosed as fever associated with infection. Atypical presentations of classic syndromes are common. Clinical suspicion is the key to diagnosis. Adverse drug reactions are a frequent culprit. Syndromes include ...

Catatonia is a distinct neuropsychiatric syndrome that is becoming more recognized clinically and in ongoing research. It occurs with psychiatric, metabolic, or neurologic conditions. It may occur in many forms, including neuroleptic malignant syndrome. Treatment with benzodiazepines or electroconvulsive therapy leads to a dramatic and rapid response, although systematic, randomized ...

PURPOSE: A case study is presented to discuss the importance of accurate assessment of a patient in the emergency department (ED) who develops neuroleptic malignant syndrome (NMS). CONCLUSIONS: There has been a significant increase in the number of patients with psychiatric emergencies seeking treatment in the ED. The most frequently ...

Numb chin syndrome is a sensory neuropathy in the distribution of the mental or inferior alveolar nerve. It may occur in benign disease, both systemic and dental in origin. It is also an under appreciated sign of malignancy. We present six cases from our experience highlighting the varied presentation and ...

Neuroleptic-induced catatonia (NIC), manifested in an extrapyramidal-catatonic syndrome, has been sporadically reported in the literature. Confusion surrounds its relationship to neuroleptic malignant syndrome (NMS) and extrapyramidal reactions to neuroleptics. This study examined (a) its clinical presentation and response to benzodiazepines, (b) the hypothesis that NIC and NMS are on the ...

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance and developmental delay; it is a generally sporadic disorder, although autosomal dominant inheritance has been reported. Some of the manifestations characterize both the Weaver and Sotos syndrome, and distinction between the two is mainly by clinical examination ...

BACKGROUND AND PURPOSE: "Sinking skin flap" (SSF) syndrome is a rare complication after large craniectomy that may progress to "paradoxical" herniation as a consequence of atmospheric pressure exceeding intracranial pressure. The prevalence and characteristics of SSF syndrome after hemicraniectomy for malignant infarction of the middle cerebral artery are not well ...

Paraneoplastic syndromes represent a group of clinical manifestations widely separated from the primary site of malignancy, which are not caused by local infiltration of the tumor or its metastases. Alterations of hemostasis and vascular abnormalities commonly accompany the progression of malignant disease. Hypercoagulability, changes in coagulation factors, anticoagulant proteins, circulating ...

Psychiatric diagnoses are currently categorized on a syndromic basis. The syndrome of catatonia, however, remains in a diagnostic limbo, acknowledged predominantly as a subtype of schizophrenia. Yet, catatonia is present in about 10% of acutely ill psychiatry patients, only a minority of whom have schizophrenia. Among those with comorbid affective ...

This article reviews literature on three emergencies in Parkinson's disease (PD): Akinetic crisis, severe dyskinesias or life-threatening dyskinesias, and polyneuropathy during duodenal L-Dopa gel infusion treatment. Akinetic crisis is also known as Parkinsonian hyperpyrexia, Neuroleptic-like malignant syndrome, Acute akinesia, and Malignant syndrome in parkinsonism. It appears in 0.3% of PD ...

Neuroleptic malignant syndrome (NMS) is a life-threatening neurologic emergency that may be caused by neuroleptic agents of any class. The association with hyperosmolar hyperglycemic state (HHS) is rare and carries a grave prognosis. We describe the case of a 25-year-old male patient with haloperidol-induced NMS complicated by HHS that culminated ...

Withdrawal neuroleptic malignant syndrome is a not widely recognised variant of the rare adverse consequence of neuroleptic medication, neuroleptic malignant syndrome (NMS). We present a case to bring the disorder to the attention of clinicians responsible for treating serious mental illness and medical and judicial officers who may be involved ...

We describe a child who developed a malignant hyperthermia-like syndrome after exposure to succinylcholine and halothane. Many features of a typical malignant hyperthermia episode were present, including tachydysrhythmia, tachypnea, and fever in association with metabolic acidosis, hyperCKemia, myglobinemia, and rapid recovery without residual effects upon administration of dantrolene, sodium bicarbonate, ...

We report the case of a 24-year-old female patient who initially developed a neuroleptic malignant syndrome after haloperidol exposure and experienced 6 years later a serotonin syndrome after repeated fluoxetine exposure. The patient did not respond to symptomatic treatment and died in this latter episode. At necropsy, no gross or ...

Catatonia is the psychiatric syndrome of disturbed motor functions amid disturbances in mood and thought first described in 1874. It was quickly found in 10% to 38% of psychiatric populations. After it was tied to schizophrenia as a type in the psychiatric classification, its recognition became increasingly limited and by ...