[Intracranial hypertension associated with cerebral venous sinus thrombosis and mastoiditis. Two paediatric case reports]. / Hipertensión intracraneal asociada a trombosis de senos venosos cerebrales y mastoiditis. A propósito de dos casos pediátricos.

INTRODUCTION: Cerebral venous sinus thrombosis is a rare condition that is generally associated with acute processes, one of the most important being mastoiditis. Associated prothrombotic disorders can be detected in approximately half of all cases, regardless of the aetiology. Patients usually present clinical symptoms like headache, convulsions and diminished level of awareness, this latter factor being linked to a poor prognosis. CASE REPORTS: We report the cases of two paediatric patients with a clinical picture of intracranial hypertension within a context of mastoiditis as a complication of an acute ear infection, in whom cerebral venous sinus thrombosis was identified. Both patients were treated with lumbar punctures to evacuate cerebrospinal fluid and diuretic therapy. Anticoagulant therapy was added in the case of the second patient. Nevertheless, because of the persistence of the symptoms of intracranial hypertension, a ventriculoperitoneal shunt had to be performed in this patient. CONCLUSIONS: The preferred diagnostic method is magnetic resonance imaging with venography, although in an emergency computerised tomography can help reach a diagnosis in a third of cases. In addition to treating the symptoms, anticoagulation is also accepted (degree of evidence 1B) to prevent further progression.

[Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry]. / Seguimiento de pacientes con sindrome de Hunter: el registro HOS (Hunter Outcome Survey).

INTRODUCTION: Hunter syndrome, or mucopolysaccharidosis type II, is an inherited disease linked to the X chromosome that is caused by a deficit of the enzyme iduronate-2-sulfatase and its main symptoms affect the bones, neurological system and the viscera. In order to further our knowledge of its natural history, a registry containing data about patients' clinical histories was compiled. The purpose of this review is to describe how the registry works and to present the initial data concerning Spanish patients with Hunter syndrome included in it. DEVELOPMENT: The Hunter Outcome Survey (HOS) registry is a multi-centre, world-wide, observational, long-term follow-up study that is open to all patients diagnosed with the disease. The registry includes clinical data and information from the complementary examinations that are commonly performed as usual practice while attending these patients. Its main aims are to describe the population of patients with the disease, to further our knowledge of its natural history, to keep a check on the safety and effectiveness of enzyme replacement therapy in patients who are candidates for such treatment and to create a database that makes it possible to draw up a set of guidelines for clinical practice. CONCLUSIONS: Specific registries of low-prevalence diseases, such as the HOS registry for patients with Hunter syndrome, are important to improve the follow-up of patients and to determine the impact of new treatments. The Spanish HOS registry is an important step forward in furthering our knowledge of the current situation of the patients registered throughout the country.

[D-lactic acidosis in an 11-year-old patient with short bowel syndrome]. / Acidosis D-láctica en un paciente de 11 años con síndrome de intestino corto.

The short bowel syndrome is the result of a congenital or acquired loss of a large part of the small intestine. The most frequent causes of surgical resection of the intestine in infants are arterial or venous thrombosis, intestinal volvulus, necrotizing enterocolitis, and Crohn's disease. Symptoms include nutrient and electrolyte malabsorption, steatorrhea and diarrhea, which can result in failure to thrive. The consequences of extensive small bowel resections consist of nutritional deficiencies, gastric acid hypersecretion, nephrolithiasis, cholelithiasis and lactic acidosis. Of these, D-lactic acidosis is an infrequent but important complication because of the symptoms that it can produce. D-lactic acid in the human organism is generated by intestinal bacteria, D-lactate ingestion, or endogenous production in the methyl glycoxylase pathway. Neurological symptoms such as somnolence, ataxia or altered behavior in a patient with short bowel syndrome should make us think of D-lactic acidosis caused by bacterial overgrowth. We present the case of an 11-year-old boy with short bowel syndrome secondary to multiple resections during the postnatal period who was admitted to hospital for episodes of confusion and altered behavior. The diagnosis was lactic acidosis. Outcome was favorable due to prompt instauration of treatment.

[Cerebellar atrophy following acute Mycoplasma pneumoniae cerebellitis]. / Atrofia cerebelosa secundaria a cerebelitis aguda por Mycoplasma pneumoniae.

INTRODUCTION: Acute cerebellitis is an uncommon complication following Mycoplasma pneumoniae infection. A benign and self-limited course has been described in the few reports found of this association. CASE REPORTS: We report two patients with an apparently M. pneumoniae-induced acute cerebellitis that resulted in cerebellar atrophy. Patients presented with a cerebellar syndrome including ataxia, hypotonia, dysarthric speech and dysmetria, which were preceded by signs of respiratory infection. Initial brain magnetic resonance imaging (MRI) in case 1 was normal but in case 2 it displayed striking cerebellar swelling, small fourth ventricle and supratentorial ventriculomegaly which was self-limited and did not require neurosurgical intervention. Serological studies confirmed a recent M. pneumoniae infection. Case 1 has followed an unfavourable clinical course, with incomplete resolution of cerebellar dysfunction, while case 2 has remained asymptomatic. Follow-up brain MRI have demonstrated prominent cerebellar atrophy in both patients. CONCLUSIONS: M. pneumoniae infection should be considered in those patients with acute cerebellitis showing an incomplete resolution of cerebellar dysfunction or those who develop early cerebellar atrophy. The presenting MRI findings do not seem to predict final neurological outcome.

[Subacute sclerosing panencephalitis: combined treatment with interferon alpha and intraventricular ribavirin]. / Panencefalitis esclerosante subaguda: tratamiento combinado con interferón alfa y ribavirina intraventricular.

INTRODUCTION: Subacute sclerosing panencephalitis (SSPE) is a chronic neurodegenerative disease secondary to an infection of the central nervous system by the measles virus, with no effective treatment. The introduction of therapy with intraventricular interferon alpha (IFN-alpha) and its later association with ribavirin aroused new expectations. In experimental studies the two drugs were seen to exert a synergic effect in reducing viral replication. Therapeutic studies carried out in patients with SSPE with the two pharmaceuticals have offered contradictory findings. CASE REPORTS: We present the cases of two patients with an early-onset, fast progressing form of SSPE, who were treated with a combined regime of oral isoprenosin, intraventricular IFN-alpha and ribavirin, which was administered intravenously in one case and intraventricularly in the other. At the beginning of treatment the patients' deterioration stabilised briefly and temporarily, but then renewed its progress. CONCLUSIONS: Combined therapy with intraventricular IFN-alpha and ribavirin was not effective in our patients. The late onset and rapidly progressing symptoms of the disease may have had an effect on the poor results obtained.

[Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome]. / Insensibilidad congénita al dolor con anhidrosis asociada a síndrome miasténico congénito.

INTRODUCTION: Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive disorder featuring recurrent fever episodes, inability to sweat, absent response to noxious stimuli, self mutilating behavior and mental retardation. It has been associated with mutations in the NTRK1 gene, located in 1q21-22 and encoding a high-affinity NGF receptor. CASE REPORT: An 8-year-old boy, the first son of consanguineous parents, presented with hypotonia, episodic hyperpyrexia and global developmental delay since the neonatal period. In addition to these signs, typical of CIPA, he displayed some other not previously described in this disease, such as facial dysmorphism, a severe swallowing disorder and a myogenic EMG pattern, that led to the initial suspicion of a muscle disorder. Molecular genetics studies uncovered a mutation c.C2011T in exon 15 of the NTRK1 gene. Genetic counselling was possible in the following pregnancy of the couple, where the female fetus was found to harbour the mutation in heterozygosity. The subsequent diagnosis of a congenital myasthenic syndrome in this sister led to neurophysiological re-evaluation of the probandus, in whom a myasthenic pattern of muscle activation was also found. CONCLUSIONS: A patient with CIPA and congenital myasthenic syndrome is described. CIPA must be the first diagnostic hypothesis when assessing a patient with insensitivity to pain, anhidrosis and self-mutilation. Given the rather homogeneous presentation of CIPA, the occurrence of atypical myopathic manifestations should raise the suspicion of a concurrent disorder. The present consanguineous kindred illustrates a rare instance of transmission of two mutated alleles giving rise to two unrelated, infrequent neurological syndromes.

[A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain]. / Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial.

INTRODUCTION: A large number of diseases present as bilateral striatal lesion syndrome (BSLS). Clinical manifestations, course and prognosis of these diseases are extremely variable. On the basis of their evolutive course, they can be separated into two major groups: acute, which include toxic, infectious or parainfectious causes, and subacute or chronic, in which inborn errors of metabolism, especially mitochondrial disorders, are the main causes. CASE REPORT: We report a detailed clinical follow-up of a 18 years old Caucasian male who, at the age of four, presented with BSLS. A respiratory chain defect was suspected on the basis of slowly progressive dystonia and cognitive impairment, changes in serial MRI studies, and the finding of 'trabecular fibers' as well as a 50% decrease of the complex I activity in striated-skeletal muscle specimen. Blood, urine and CSF markers classically associated with respiratory chain diseases were normal. Molecular studies identified a new pathogenetic mutation (T14487C) in the mitochondrial ND6 gene of the respiratory chain complex I. CONCLUSION: Mitochondrial metabolism disorders should be ruled out in patients presenting with a subacute or chronic form of BSLS even in the absence of other common mitochondrial disease markers.

[Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy]. / Enfermedad de Gaucher (homozigoto D409H/D409H): evolución con tratamiento enzimático sustitutivo.

Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The D409H mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular calcifications in late childhood. We report a 4-year-old patient, homozygous for the D409H mutation, who was diagnosed with Gaucher's disease at the age of 45days. Enzyme replacement therapy was started at the age of 2months. We report the patient's evolution after 4years of treatment.

[Ophthalmoplegia-ataxia-areflexia in pediatrics. Three new patients and review of the literature]. / Oftalmoplejía-ataxia-arreflexia en pediatría. Tres nuevos pacientes y revisión de la literatura.

OBJECTIVE: The objective of this study was to investigate if pediatric patients with benign brainstem encephalitis (Bickerstaff Syndrome) or with Miller-Fisher Syndrome are the extremes of the same nosological entity which, in adults, has been named ophalmoplegia-ataxia-areflexia syndrome. PATIENTS AND METHODS: The subjects included in the study were three patients of our institution and 24 patients found in the revision of the English and Spanish pediatric literature who fulfilled the diagnostic criteria of ophtalmoplegia-ataxia-areflexia syndrome. The topographical location of the lesion in the nervous system was based on previously established criteria by using clinical and complementary studies. RESULTS: Of the 27 patients included in the study we were able to reach an accurate topographical diagnosis in 9. None had an exclusive involvement of the peripheral nervous system, (6) had exclusively central nervous system involvement and 2 showed involvement of both system. In 12, the topographical location of the lesion could be only ascertained as probable; 3 of them in the peripheral nervous system, 2 in the central nervous system and mixed involvement in 7. In the remaining 7 patients there were insufficient clinical data to allow topographical classification. CONCLUSIONS: The ophtalmoplegia-ataxia-areflexia syndrome can also be found in pediatric patients. The lesion in the majority of patients in this age group is located in the central nervous system, either alone or combined with peripheral nervous system involvement.