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.

[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.

[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.