BackgroundA patient with an early diagnosed epilepsy Valproic acid is one of the most widely used antiepileptic drugs. Hyperammonemic encephalopathy is a rare, but potentially fatal, adverse drug reaction to valproic acid.Case descriptionA patient with an early diagnosed epilepsy, treated with valproic acid, experienced an altered mental state after 10 days of treatment. Valproic acid serum levels were within limits, hepatic function tests were normal but ammonia levels were above the normal range.Valproic acid was stopped and the hyperammonemic encephalopathy was treated with lactulose 15 ml twice daily, metronidazole 250 mg four times daily and L-carnitine 1 g twice daily.Discussion and evaluationMonitoring liver function and ammonia levels should be recommended in patients taking valproic acid. The constraints of the pharmaceutical market had to be taken into consideration and limited the pharmacological options for this patient's treatment.ConclusionsIdiosyncratic symptomatic hyperammonemic encephalopathy is completely reversible, but can induce coma and even death, if not timely detected.Clinical pharmacists can help detecting adverse drug reactions and provide evidence based information for the treatment.

Este estudo teve por objetivo compreender o cuidado as pessoas com HIV/aids, na perspectiva de profissionais de saúde, em Portugal. Foi desenvolvido através do método da história oral, de Thompson, com a participação de 22 profissionais de saúde. Os dados foram obtidos através de entrevista semiestruturada e analisados com base na perspectiva de coletânea de narrativas, propostas pelo autor com o apoio do programa QSR NVivo. Os aspectos éticos foram obedecidos ao longo do estudo. O cuidado foi agrupado em três dimensões: cognitiva, afetiva-relacional e técnico-instrumental. A dimensão cognitiva destacou-se no período da revelação do diagnóstico de HIV/aids e ao longo da evolução da doença. A dimensão afetivo-relacional foi transversal e valorizada em todo o processo, desde o diagnóstico até à morte das pessoas com HIV/aids. A dimensão técnico-instrumental foi mais expressiva na fase mais avançada da doença, em situação de dependência e de terminalidade. Diante do exposto, podemos concluir que estas três dimensões são fundamentais para o cuidado à pessoa com HIV/aids.

Paclitaxel interferes with the pharmacokinetics of doxorubicin leading to higher systemic exposure to both doxorubicin and doxorubicinol, which is more evident when the plasma concentration of the anthracyclines is higher. This interference may explain the higher incidence of cardiac toxicity observed when the two drugs are administered within a short interval.

Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.

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Ophthalmoplegic migraine is a rare disorder characterized by childhood-onset ophthalmoplegia and migraine headaches. The third cranial nerve is commonly involved, while involvement of the sixth and fourth cranial nerves is uncommon. We present the case study of a 15-year-old female teenager whose condition was diagnosed with ophthalmoplegic migraine when she was 9 years old and since then has experienced multiple and recurrent attacks. Since the diagnosis, she has exhibited a persistent right-eye mydriasis, despite resolution of migrainous episodes. Pupillary involvement in ophthalmoplegic migraine is the rule in children, with total recovery in the majority of cases. We will discuss some aspects related to the eventual association between this entity and other comorbidities, such as Adie tonic pupil, emphasizing the fact that the underlying mechanisms of this residual mydriasis are not fully understood.

Sir,Prader, Labhart, and Willi in 1956 described a condition with the characteristic features of obesity, short stature, and developmental delay [4]. Prader-Willi syndrome (PWS) is a neuroendocrine disorder. 70% of patients with PWS have a characteristic deletion of the proximal part of the long arm of chromosome 15 (15 del[q11q13]) and 30% have maternal uniparental disomy or rarely abnormal methylation at chromosome 15q11 ± 13 [5]. Typically, children are born at term but are small for gestational age, 30 % are breech. They present with profound muscular hypotonia, swallowing difficulties, and hypogonadism. Obesity, moderate learning disability, behaviour problems, and hyperphagia may present in childhood or adolescence [2].We observed an infant with Prader-Willi syndrome and bilateral subdural and extradural haemorrhage and effusions without any signs of birth trauma or identifiable coagulopathy. Subdural and extradural haemorrhage have not been previously reported in association with PWS.The child was the second son of healthy, unrelated parents. At 34 weeks gestation an ultrasound scan showed reduced fetal growth and a transverse lie. For this reason delivery was by Caesarean section at 39 weeks gestation. A male infant was delivered in an extended breech position. His birth weight was 2.53 kg (2nd centile) and his head circumference was 34.5 cm (25th centile). Clinical examination revealed generalised hypotonia with no movements of the lower limbs and reduced spontaneous movements of the upper limbs. Deep tendon reflexes were absent. Spontaneous eye opening was noted. He had a weak, high-pitched cry, swallowing difficulties and a poor suck which necessitated nasogastric tube-feeding. In addition he had dysmorphic features: Bilateral single palmar creases, divarication of recti, and bilaterally undescended testes. He had bilaterally dislocated hips and tended to hold both thumbs adducted although they did straighten on passive movements.Molecular genetic investigation for PWS by Southern blot detected a 4.2 kb band only at KB17 and confirmed the diagnosis of PWS.Due to the clinical impression of central hypotonia, investigations included magnetic resonance imaging at the age of 10 days which revealed moderately sized bilateral subdural collections which were blood stained. A small focal area of haemorrhage was seen along the posterior aspect of the falx. The subarachnoid space was capacious and additionally there were shallow extradural collections over the convexity (Fig. 1). To determine the cause of these effusions, several investigations were undertaken to identify a bleeding diathesis: Full blood count, clotting (prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, platelet count), platelet function tests and factor XIII were all within the normal range. Serum lactate, plasma amino acids, urine organic acids, and peroxisomal function tests were also normal.Subdural haemorrhage in term neonates is an uncommon form of intracranial haemorrhage (less than 0.5 per 1000 deliverie...

Twin anemia-polycythemia sequence (TAPS), which was first described in 2007, is an atypical chronic form of twin-twin transfusion syndrome (TTTS). It presents as a large intertwin hemoglobin difference, with one twin developing anemia and the other polycythemia, without the traditional “polyhydramnios-oligohydramnios sequence” that is usually seen in TTTS. So far, ideal management of TAPS is not clear. We report here the case of a monochorionic biamniotic gestation, complicated by TAPS, detected at 30 weeks’ gestation that led to an emergent cesarean section. The recipient twin had an uneventful evolution. The donor twin was severely anemic, with a hemoglobin level of 2.5 g/dL that required immediate blood transfusion and intensive care management measures. Clinical evolution was favorable with good outcome in both twins. This case report intends to emphasize the association between hydrops fetalis and severe anemia, as well as the relevance of antenatal Doppler ultrasound investigations and the importance of an accurate management decision.