Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech. Female patients with Xq duplications including MECP2 are rare. Only recently submicroscopic duplications of this region on Xq28 have been recognized in four females, and a triplication in a fifth, all in combination with random X-chromosome inactivation (XCI). Based on this small series, it was concluded that in females with MECP2 duplication and random XCI, the typical symptoms of affected boys are not present. We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females. The collected data indicate that the associated phenotype in females is distinct from males with similar duplications, but the clinical effects may be as severe as seen in males.

Crisis epilépticas generalizadas asociadas a intoxicación pasiva por cocaína en un lactante / Generalized epileptic seizures in an infant due to passive exposure to cocaine

Fundamento. Las crisis convulsivas sin fiebre en lactantesimplican un diagnóstico diferencial amplio.Caso clínico. Lactante mujer de 7 meses que presenta,estando afebril, dos crisis generalizadas tónico-clónicasbreves en 23 horas. Su desarrollo psicomotor y estaturo-ponderal seguía un curso normal. Se obtuvo analíticade sangre, ecografía cerebral y electroencefalograma,normales. Debido a una situación sociofamiliar desfavorable,se realizaron tóxicos en orina, positivos paracocaína en dos muestras sucesivas; se negativizaronen 48 horas. Estuvo en contacto con humo ambientalhoras previas al inicio de las crisis. Sin crisis en lossiguientes 6 meses, con desarrollo normal, sigue bajovigilancia por asistencia social.Discusión. La inhalación pasiva de humo de cocaína seasocia a crisis convulsivas en lactantes. Este riesgo escasi desconocido en nuestro país, a pesar del aumentodel consumo de crack. Ante una primera crisis epilépticaafebril en cualquier edad, se debe incluir de formarutinaria la detección de tóxicos en orina(AU)

Background. The differential diagnosis of afebrile seizuresin the first year of life is extensive.Case report. A 7-month old infant presented two afebrilegeneralized tonic-clonic seizures in 23 hours; her psychomotorand growth development followed a normalcourse. Laboratory analysis, cerebral echography andelectroencephalogram were normal. Urine toxicologywas positive for cocaine on two occasions. A negativeurine sample was obtained 48 hours later. The parentsdenied drug abuse but explained a recent exposure tosmoke some hours before the episode. The patient hadno seizures in the following six months, with normal psychomotordevelopment.Discussion. Passive inhalation of cocaine is associatedwith seizures in infants. There is no perception ofthe risk of passive exposure to cocaine in our country,despite the increasing consumption of crack in youngadults. Urine toxicology should be systematicallyincluded in the study of a first afebrile seizure in aninfant(AU)

[Paraneoplastic opsoclonus myoclonus ataxia syndrome]. / Síndrome opsoclono-mioclono-atáxico paraneoplásico.

Opsoclonus myoclonus ataxia syndrome (OMAS) is a very infrequent paraneoplastic or postinfectious movement disorder, which may occur at any age, most commonly between 6 and 36 months of age. In four days, a previously healthy 30-month-old girl progressively developed gait instability, intention tremor, dysarthric speech, irritability and altered sleep. Physical and neurological examination did not reveal additional deficits. She had had a transient exanthema without fever three weeks before. Basic blood analysis, serologies, cultures, urine toxin detection, EEG and cerebral CT were normal. Lumbar puncture showed minimal lymphocytosis. On the fifth day following the onset of symptoms, the ataxia worsened, precluding sitting, and the tremor was aggravated by intentional myoclonus. Chaotic saccadic, large amplitude multidirectional but conjugated eye movements appeared. An opsoclonus was suspected and a chest X-ray and CT revealed a paravertebral thoracic mass. Surgery confirmed a localized ganglioneuroblastoma. Blood neuron-specific enolase and urine catecholamine levels were normal. Opsoclonus disappeared with high doses of prednisone and following surgery. Ataxia improved but the patient still required low daily doses of steroids for one year.

Síndrome opsoclono-mioclono-atáxico paraneoplásico / Paraneoplastic opsoclonus myoclonus ataxia syndrome

El síndrome opsoclono-mioclono-atáxico (SOMA)es un trastorno del movimiento muy infrecuente, de origenautoinmune y de aparición a cualquier edad, másprobable entre los 6-36 meses.Se presenta el caso de una niña de 30 meses, previamentesana, que desarrolló progresivamente en cuatrodías marcha inestable, temblor intencional, habla escandida,irritabilidad y trastorno del sueño. El resto de laexploración física y neurológica era normal. Presentóexantema leve tres semanas antes. Al ingreso, la analíticageneral, cultivos, tóxicos en orina, serologías, electroencefalogramay tomografía cerebral (TC) fueron normales.La punción lumbar mostró linforraquia leve. Al quintodía desde el inicio, la ataxia impedía la sedestación y eltemblor era generalizado agravado probablemente pormioclonias intencionales. Aparecieron entonces movimientosoculares rápidos, sacádicos, multidireccionales,aunque conjugados. Ante el diagnóstico de opsoclono,se solicitó radiografía de tórax observando una masa torácicaparavertebral, corroborada en la TC torácica. Lacirugía confirmó un ganglioneuroblastoma localizado. Laenolasa neuronal específica en sangre y catecolaminasen orina fueron normales. El opsoclono desapareció conprednisona oral a altas dosis y tras cirugía. Un año despuésprecisaba dosis mínima de corticoide por apariciónde leve inestabilidad de la marcha e irritabilidad al suspenderla medicación(AU)

Opsoclonus myoclonus ataxia syndrome (OMAS)is a very infrequent paraneoplastic or postinfectiousmovement disorder, which may occur at any age, mostcommonly between 6 and 36 months of age.In four days, a previously healthy 30-month-oldgirl progressively developed gait instability, intentiontremor, dysarthric speech, irritability and altered sleep.Physical and neurological examination did not revealadditional deficits. She had had a transient exanthemawithout fever three weeks before. Basic blood analysis,serologies, cultures, urine toxin detection, EEG and cerebralCT were normal. Lumbar puncture showed minimallymphocytosis. On the fifth day following the onsetof symptoms, the ataxia worsened, precluding sitting,and the tremor was aggravated by intentional myoclonus.Chaotic saccadic, large amplitude multidirectionalbut conjugated eye movements appeared. An opsoclonuswas suspected and a chest X-ray and CT revealeda paravertebral thoracic mass. Surgery confirmed alocalized ganglioneuroblastoma. Blood neuron-specificenolase and urine catecholamine levels were normal.Opsoclonus disappeared with high doses of prednisoneand following surgery. Ataxia improved but the patientstill required low daily doses of steroids for one year(AU)

[Generalized epileptic seizures in an infant due to passive exposure to cocaine]. / Crisis epilépticas generalizadas asociadas a intoxicación pasiva por cocaína en un lactante.

BACKGROUND: The differential diagnosis of afebrile seizures in the first year of life is extensive. CASE REPORT: A 7-month old infant presented two afebrile generalized tonic-clonic seizures in 23 hours; her psychomotor and growth development followed a normal course. Laboratory analysis, cerebral echography and electroencephalogram were normal. Urine toxicology was positive for cocaine on two occasions. A negative urine sample was obtained 48 hours later. The parents denied drug abuse but explained a recent exposure to smoke some hours before the episode. The patient had no seizures in the following six months, with normal psychomotor development. DISCUSSION: Passive inhalation of cocaine is associated with seizures in infants. There is no perception of the risk of passive exposure to cocaine in our country, despite the increasing consumption of crack in young adults. Urine toxicology should be systematically included in the study of a first afebrile seizure in an infant.

[Neurofibromatosis type 1 and optic pathway gliomas. A series of 80 patients]. / Neurofibromatosis tipo 1 y gliomas de vías ópticas. Una serie de 80 pacientes.

PATIENTS AND METHODS: From a series of 530 patients with neurofibromatosis type 1 (NF1), we performed a retrospective assessment of the long-term neurologic, visual, neuroimaging and evolution of 80 patients (15%) with optic pathway gliomas (OPG). All the 80 patients, 58 (72.5%) females and 22 (27.5%) males were diagnosed during childhood (below age 16 years), range 13 months to 15 years (average: 4.6 years). RESULTS: Image studies showed the distribution of the lesions among optic nerves, chiasm, tracts and radiations demonstrated that only 25% of the tumors involved only one optic nerve and 11.5% were located only in the chiasm, while 40% involved one or both optic nerves and chiasm, tracts and radiations. Two patients showed pilocytic astrocytoma in the histological study. Late diagnosis (after 7 years of age) of OPG was made in three patients and late progression was evident in three others who required surgical resection, radiotherapy or chemotherapy. CONCLUSIONS: All patients were diagnosed during childhood (below 16 years of age). Incidence was double in girls than in boys. Despite the apparent tumoral agressivity of the magnetic resonance and magnetic resonance spectroscopy images, histological findings corresponded to benign pilocytic astrocytoma. Some tumors follow the growth after 7 years. Continued monitoring of patients with NF1 into adulthood is advisable.

Further case of aminopterin syndrome sine aminopterin in a Spanish child.

We report on a Spanish child with clinical manifestations suggestive of aminopterin syndrome sine aminopterin (ASSA), having unusual hair pattern, syndactyly of fingers and toes, low-set thumbs, high-arched palate, and mild developmental delay. However, he does not show other characteristic features of ASSA such as ossification defects of the cranium, microcephaly, hypertelorism, cryptorchidism, or growth retardation. Differences from and similarities with Juberg-Hayward syndrome are discussed. Because few patients have been reported so far it is difficult to distinguish between these two conditions, and it may be that they are variants of the same nosological entity. Consanguinity of parents in this family supports autosomal recessive inheritance of ASSA.