Response to methylphenidate by adult and pediatric patients with attention-deficit/hyperactivity disorder: the Spanish multicenter DIHANA study.

BACKGROUND: The purpose of this multicenter Spanish study was to evaluate the response to immediate-release methylphenidate by children and adults diagnosed with attention-deficit/hyperactivity disorder (ADHD), as well as to obtain information on current therapy patterns and safety characteristics. METHODS: This multicenter, observational, retrospective, noninterventional study included 730 patients aged 4-65 years with a diagnosis of ADHD. Information was obtained based on a review of medical records for the years 2002-2006 in sequential order. RESULTS: The ADHD predominantly inattentive subtype affected 29.7% of patients, ADHD predominantly hyperactive-impulsive was found in 5.2%, and the combined subtype in 65.1%. Overall, a significant lower Clinical Global Impression (CGI) score and mean number of DSM-IV TR (Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, Text Revision) symptoms by subtype were found after one year of treatment with immediate-release methylphenidate; CGI decreased from 4.51 to 1.69, symptoms of inattention from 7.90 to 4.34, symptoms of hyperactivity from 6.73 to 3.39, and combined subtype symptoms from 14.62 to 7.7. Satisfaction with immediate-release methylphenidate after one year was evaluated as "very satisfied" or "satisfied" by 86.90% of the sample; 25.75% of all patients reported at least one adverse effect. At the end of the study, 41.47% of all the patients treated with immediate-release methylphenidate were still receiving it, with a mean time of 3.80 years on therapy. CONCLUSION: Good efficacy and safety results were found for immediate-release methylphenidate in patients with ADHD.

Síndrome de deleción de genes contiguos en Xp21: una forma inusual de presentación / Delection syndrome In Xp21: An unusual form of presentation

Introducción. Describimos el caso de un lactante en el que la asociación de distrofia muscular de Duchenne (DMD) yuna pseudohipertrigliceridemia condujeron al diagnóstico de un síndrome de deleción de genes contiguos en Xp21. Caso clínico.Niño de 7 meses de edad remitido por retraso psicomotor. En la exploración destacaba una hipotonía axial marcada. Laanalítica mostró una elevación de las enzimas musculares con niveles de creatinfosfocinasa de 12.829 UI/L, junto con cifraselevadas de triglicéridos en sangre. Los hallazgos del electromiograma fueron compatibles con afectación miopática. El estudiogenético de distrofinopatías mostró la existencia de una deleción en el gen de la distrofina. La analítica ampliada identificóconcentraciones elevadas de glicerol tanto en sangre como en orina, compatibles con un déficit de glicerolcinasa. El estudiogenético confirmó la existencia de una deleción en Xp21 de los genes responsables de la DMD, del déficit de glicerolcinasa,de la hipoplasia suprarrenal congénita (gen DAX1) y del retraso mental (gen IL1RAPL1). Conclusiones. En lactantes y niñospequeños con afectación miopática, la elevación de las cifras de creatinfosfocinasa y pseudohipertrigliceridemia debeconsiderarse el síndrome de deleción de genes contiguos en Xp21 para prevenir y tratar las complicaciones metabólicas derivadasde la hipoplasia suprarrenal (AU)

Introduction. We report a case of an infant where the association of Duchenne’s muscular dystrophy (DMD) andpseudohypertriglyceridaemia led to the diagnosis of contiguous gene deletion syndrome in Xp21. Case report. A 7-month-oldmale infant who was referred due to psychomotor retardation. The examination revealed pronounced axial hypotonia. Labfindings showed high levels of muscular enzymes with creatine phosphokinase levels of 12,829 IU/L, together with high bloodlevels of triglycerides. Electromyogram findings were consistent with myopathic compromise. The genetic study for dystrophinopathiesrevealed the existence of a deletion in the dystrophin gene. Further lab findings identified high glycerol concentrationsboth in blood and in urine that were compatible with a glycerol kinase deficiency. The genetic study confirmed the existence ofa deletion in Xp21 of the genes responsible for DMD, the glycerol kinase deficiency, the congenital adrenal hypoplasia (geneDAX1) and mental retardation (gene IL1RAPL1). Conclusions. In infants and small children with myopathic compromise,increased levels of creatine phosphokinase and pseudohypertriglyceridaemia it is essential to take into account contiguousgene deletion syndrome in Xp21 to be able to prevent and treat the metabolic complications arising from adrenal hypoplasia (AU)

Mevalonic aciduria: report of two cases.

Mevalonic aciduria is a rare disease that is a consequence of a deficiency of mevalonate kinase, an inborn error in the biosynthesis of cholesterol. Approximately 30 cases have been reported. We present our data on two siblings with mevalonic aciduria as a contribution to the recognition of this subject. Both were born after uneventful pregnancies. Their parents were healthy and not consanguineous. They had normal somatic and psychomotor development until they were around 2 years old. After the second year of life they developed mental retardation, ataxia and hypotonia. MRI showed cerebellar atrophy of both hemispheres and vermis. One sibling, from the age of 10 years onwards, suffered from complex partial seizures that were controlled with levetiracetam and lamotrigine. At 11 and 12 years of age, respectively, they were able to walk without help, but their gait was broad and ataxic. Their speech was dysarthric, fine motor skills were impaired as result of cerebellar ataxia, and they had moderate mental retardation. Diagnosis of mevalonic aciduria was made at this age through urinary organic acid analysis by gas chromatography-mass spectroscopy, which revealed high urinary excretion of mevalonic acid. They are currently 18 and 17 years old, respectively, show mental retardation and are able to walk but with difficulty. In our patients, ataxia due to cerebellar atrophy and mental retardation have been the predominant clinical manifestations. In mildly affected patients who survive infancy, these seem to be the predominant findings.

[Cerebral infarct secondary to carotid artery dissection]. / Infarto cerebral isquémico por disección de arteria carótida interna.

Dissection of the internal carotid artery is an important cause of ischemic stroke in children and young patients. Trauma and/or an underlying structural defect of the arterial wall have been suggested to be predisposing factors. The typical patient presents with ipsilateral headache or neck pain, ipsilateral Horner's syndrome and delayed ischemic symptoms. Diagnosis is given by ultrasound, transcranial Doppler, magnetic resonance imaging, magnetic resonance angiography and conventional angiography. Treatment of this type of injury includes anticoagulation therapy, antiplatelet therapy and surgery. We report a 14-year-old boy with internal carotid artery dissection who presented with ischemic stroke.

Infarto cerebral isquémico por disección de arteria carótida interna / Ischemic stroke secondary to carotid artery dissection

La disección de la arteria carótida interna es una causa importante de ictus isquémico en niños y pacientes jóvenes. En la patogenia se han implicado traumatismos y/o un posible defecto estructural de la pared arterial. Las manifestaciones clínicas típicas incluyen cefalea o dolor de cuello y síndrome de Horner en el lado de la disección, con la aparición después de síntomas isquémicos cerebrales. La ecografía, el Doppler transcraneal, la resonancia magnética (RM), la angiorresonancia y la angiografía proporcionan el diagnóstico. Las opciones de tratamiento comprenden anticoagulantes, antiagregantes plaquetarios y cirugía. Presentamos un adolescente de 14 años con un ictus isquémico secundario a disección de la arteria carótida interna. (AU)

Vigabatrin-associated reversible acute psychosis in a child.

OBJECTIVE: To describe a child with vigabatrin-associated reversible acute psychosis and review the literature reports on this adverse effect. CASE SUMMARY: A 7-year-old boy with intractable epilepsy developed acute psychosis 3 days after initiating a rapid vigabatrin dosage escalation. All symptoms resolved within 48 hours after vigabatrin therapy was withdrawn. Two months later, reinitiation of vigabatrin therapy using a slower dosage escalation was well-tolerated by the patient, and he currently is being treated with vigabatrin successfully. DISCUSSION: Although vigabatrin-associated psychosis is rare, a few cases have been reported in predisposed adult patients, especially in the early stages of treatment. The mechanism of this reaction remains unclear and its incidence is unknown. To our knowledge, there has been no previous report of this adverse effect in children. CONCLUSIONS: Caution must be taken in children with predisposing factors at the beginning of vigabatrin therapy.