Gian Paolo Ramelli

Cognitive impairment and cortical reorganization in children with benign epilepsy with centrotemporal spikes.

Benign epilepsy with centrotemporal spikes (BECTS) is associated with mild cognitive deficits, especially language impairment. This study aimed to clarify whether children with BECTS with left‐ or right‐hemispheric, or bilateral focus have specific neuropsychological language deficits when compared to healthy controls, whether these deficits correlate functionally with language network organization (typical vs. atypical), and whether cofactors such as duration, handedness, and medication have a relevant impact on language reorganization processes.

Benign neonatal sleep myoclonus: a review of the literature

OBJECTIVE: Neurologically normal term infants sometimes present with repetitive, rhythmic myoclonic jerks that occur during sleep. The condition, which is traditionally resolved by 3 months of age with no sequelae, is termed benign neonatal sleep myoclonus. The goal of this review was to synthesize the published literature on benign neonatal sleep myoclonus. METHODS: The US National Library of Medicine database and the Web-based search engine Google, through June 2009, were used as data sources. All articles published after the seminal description in 1982 as full-length articles or letters were collected. Reports that were published in languages other than English, French, German, Italian, Portuguese, or Spanish were not considered. RESULTS: We included 24 reports in which 164 term-born (96%) or near-term–born (4%) infants were described. Neonatal sleep myoclonus occurred in all sleep stages, disappeared after arousal, and was induced by rocking the infant or repetitive sound stimuli. Furthermore, in affected infants, jerks stopped or even worsened by holding the limbs or on medication with antiepileptic drugs. Finally, benign neonatal sleep myoclonus did not resolve by 3 months of age in one-third of the infants. CONCLUSIONS: This review provides new insights into the clinical features and natural course of benign neonatal sleep myoclonus. The most significant limitation of the review comes from the small number of reported cases.

Nervous system dysfunction in Henoch–Schönlein syndrome: systematic review of the literature

OBJECTIVEnCNS or peripheral nervous system dysfunction sometimes occurs in Henoch-Schönlein patients.nnnMETHODSnWe review all Henoch-Schönlein cases published after 1969 with CNS dysfunction without severe hypertension and neuroimaging studies (n = 35), cranial or peripheral neuropathy (n = 15), both CNS and peripheral nervous system dysfunction without severe hypertension (n = 2) or nervous system dysfunction with severe hypertension (n = 2). Forty-four of the 54 patients were <20 years of age.nnnRESULTSnIn patients with CNS dysfunction without or with severe hypertension the following presentations were observed in decreasing order of frequency: altered level of consciousness, convulsions, focal neurological deficits, visual abnormalities and verbal disability. Imaging studies disclosed the following lesions: vascular lesions almost always involving two or more vessels, intracerebral haemorrhage, posterior subcortical oedema, diffuse brain oedema and thrombosis of the superior sagittal sinus. Following lesions were noted in the subjects with cranial or peripheral neuropathy without severe hypertension: peroneal neuropathy, peripheral facial palsy, Guillain-Barré syndrome, brachial plexopathy, posterior tibial nerve neuropathy, femoral neuropathy, ulnar neuropathy and mononeuritis multiplex. Persisting signs of either CNS (n = 9) or peripheral (n = 1) nervous system dysfunction were sometimes reported.nnnCONCLUSIONSnIn Henoch-Schönlein syndrome, signs of nervous system dysfunction are uncommon but clinically relevant. This review helps clinicians managing Henoch-Schönlein syndrome with nervous system dysfunction.

Benign neonatal sleep myoclonus: An under‐recognized, non‐epileptic condition

UNLABELLEDnDuring a 3-y period 13 newborns were referred for investigation of jerks. The events were epileptic in six children. The diagnosis of benign neonatal sleep myoclonus was made in the remaining seven children.nnnCONCLUSIONnBenign neonatal sleep myoclonus is an important neonatal entity that can be mistaken for epilepsy.

Precipitants in 42 cases of erythema multiforme.

Abstract A total of 42 children with erythema multiforme (aged 0.1 to 15.8 years, median 6.1 years) were treated between 1978 and 1997 at the Department of Paediatrics, University of Bern, Switzerland. Antecedent infections were noted in 30 cases: Mycoplasma pneumoniae infection (nu200a=u200a14), acute upper respiratory tract disease (nu200a=u200a10) and herpes simplex infection (nu200a=u200a6). Four cases were associated with antecedent medication (nu200a=u200a3) or immunization (nu200a=u200a1). In 12 of the 30 patients in whom erythema multiforme followed an infectious disease, drugs described in the literature as inducers of erythema multiforme had been given for symptoms not suggestive of the condition. In the remaining eight children no precipitating agent could be detected.nConclusion In this survey infections were found as a definite or at least presumptive trigger of erythema multiforme in 71% of cases. Drugs (including immunization) implicated as triggers of erythema multiforme played a definite causative role in 10% and a presumptive role in a further 29% of patients. In 19% of patients an associated condition was not diagnosed.

Metabolic disturbances and renal stone promotion on treatment with topiramate: a systematic review.

The use of topiramate, which is prescribed for the management of epilepsy, for migraine headache prophylaxis and as a weight‐loss agent, has been associated with the development of metabolic acidosis, hypokalaemia and renal stone disease. We systematically reviewed all the literature.

Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study

Microduplication of the 22q11.2 chromosomal region has been recognized since 1999 and has been associated with a highly variable phenotype. Neurodevelopmental impairment and behavioural problems are very common in patients with 22q11.2 duplication. Autism spectrum disorders (ASDs) have previously been reported in only two patients with 22q11.2 duplication and striking dysmorphic features. We report here on a 4‐year‐old male of healthy consanguineous parents presenting with ASD according to DSMIV, revised, criteria as a primary manifestation. The child walked at 16 months and started to say one word and some sounds. Parents noticed a subsequent developmental arrest. At 4 years his functional development age, evaluated by the Psychoeducational Profile, was roughly 6 months. Mild non‐specific facial dysmorphism was noted. Genetic analyses of the child demonstrated a de novo microduplication of the 22q11.2 chromosomal region. This genetic anomaly was best seen in interphases of blood lymphocytes and in buccal smear nuclei. Our case illustrates once again the clinical heterogeneity of the 22q11.2 duplication as well as the wide genetic complexity of ASD. We suggest that genetic evaluation of ASD should include fluorescence in‐situ hybridization analysis of the 22q11.2 chromosomal region.

Tele-echocardiography in paediatrics

Echocardiographic images can be transmitted over increasing distances with less cost and better quality thanks to advances in the field of telecommunications. This technological support can be used to detect heart defects in newborns and children in remote situations. The intent of this study was to confirm the feasibility and usefulness of telemedical communication for echocardiographic evaluation of paediatric cardiovascular disease. A total of 214 echocardiographs were performed in 194 children at a remote hospital by an experienced sonographer in paediatric echocardiography. These echocardiograms were transmitted to a distant tertiary care paediatric cardiology centre using a telemedicine link across three ISDN lines. There an experienced paediatric cardiologist interpreted the tele-echocardiograms. Tele-distant diagnoses were prospectively documented and compared with the diagnoses made subsequently on direct consultation and echocardiography. The quality of transmitted echocardiographic images was sufficient for evaluation except for one case. In 191 children (98%), the remote echocardiographic diagnosis was correct as confirmed by follow-up face to face consultations. Three cases were diagnosed incorrectly. Conclusion: our results confirm that accurate and rapid diagnosis can be provided by tele-echocardiography in neonates and children. This facilitates the appropriate care of these patients as expensive and potentially dangerous long-distance transfers can be avoided.

Rhabdomyolysis and Anesthesia: A Report of Two Cases and Review of the Literature

Rhabdomyolysis occurred in two apparently healthy boys aged 9.5 and 5.5 years after general anesthesia with suxamethonium. Mild hyperkalemia and renal failure were observed in the first patient, who was subsequently diagnosed with Becker dystrophy. In the second patient, the clinical presentation was not classic for malignant hyperthermia and a muscle biopsy failed to disclose any pathological finding. A review of the literature revealed 66 pediatric cases (56 boys and 10 girls) of anesthesia-associated rhabdomyolysis. Forty-nine (74%) cases were caused by an underlying, mostly unrecognized congenital muscle disease, and 14 (21%) cases were caused by malignant hyperthermia susceptibility. Hyperkalemia (23 patients), cardiac arrhythmias (38 patients), renal failure (4 patients), and death (11 patients) were the most serious complications of anesthesia-associated rhabdomyolysis. The neuromuscular blocking agent suxamethonium had been used in at least 43 of the patients reported in the literature.

Urinary chloride excretion distinguishes between renal and extrarenal metabolic alkalosis.

The aetiology of normotensive hypokalaemic metabolic alkalosis is sometimes not obtainable from the history. Observations in adults indicate that the urinary chloride excretion is low in metabolic alkalosis of extrarenal origin. The chloride/creatinine ratio in random urines was therefore compared in 283 healthy children and in eight paediatric patients with metabolic alkalosis. The urinary chloride/creatinine ratio was reduced in four patients with metabolic alkalosis of extrarenal origin and within reference values or above in four patients with metabolic alkalosis of renal origin.ConclusionThe study confirms that urinary chloride/creatinine ratio discriminates between extrarenal and renal forms of metabolic alkalosis.