[Carpal tunnel syndrome in childhood.]. / Síndrome del túnel carpiano en la infancia.

Introduction. Carpal tunnel syndrome (CTS) has usually a different clinical presentation in children compared to adults. On top of this, its rarity in childhood makes it difficult to diagnose. It has also different etiologies at this age, the majority of cases occur in children with lysosomal storage diseases (mucopolysaccharidosis and mucolipidosis) which may be the first manifestation of this disease in some cases. Clinical case. In this article we describe 3 cases of children aged between 4 and 10 years, 2 with idiopathic CTS and 1 with primary familial origin. The symptoms of the former were intermittent paresthesias and handling difficulty, while the familial case presented with a more typical paresthesias and pain. The neurophysiological study confirmed the diagnosis. Concerning the patient with a history of CTS in the family, MRI showed a compression of the nerve due to the thickening of the flexor retinaculum. In all cases, lysosomal storage disease was ruled out and a conservative treatment was initiated. Evolution was favorable in the idiopathic cases, one of them with an almost complete remission of symptoms, while the patient with a familial CTS follows a progressive course and is waiting for the surgical assessment. Discussion. The CTS in pediatric age presents milder and more unspecific symptoms than in adults, and the results of the exploration and provocation tests are often unclear. Surgical treatment is almost always necessary, although some idiopathic cases, particularly if they are not associated to the thickening of the flexor retinaculum, may improve with a conservative treatment.

Evolución de la hiperglicinemia no cetósica neonatal en tratamiento / Clinical progress of neonatal non-ketotic hyperglycinemia under treatment

Introducción. La hiperglicinemia no cetósica es un error congénito de la degradación de la glicina. La forma más frecuente es la clásica neonatal, que se inicia a los pocos días con letargia, hipotonía, mioclonías, convulsiones, apneas y, con frecuencia, muerte. Los que sobreviven suelen desarrollar epilepsia rebelde y retraso mental. No existe tratamiento efectivo, pero se ha ensayado una terapia que disminuye la concentración de glicina, el benzoato (BZ), y otra que bloquea el efecto excitatorio en los receptores N-metil-Daspartato: el dextrometorfano (DTM). Caso clínico. Presentamos la evolución de un caso clásico neonatal, que debutó a las pocas horas con hipotonía y estupor, sin mioclonías ni crisis, pero con trazado onda-supresión en el electroencefalograma (EEG). El líquido cefalorraquídeo (LCR) mostró una concentración de glicina de 141 µmol/L (la normal es 6,66 ñ 2,66 µmol/L), con un cociente LCR/ plasma de 0,19 (el cociente normal es inferior a 0,02). Se inició el tratamiento al decimotercer día con BZ y DTM, y el estado de alerta y fijación ocular mejoró en sólo tres días; al mismo tiempo, se normalizó el EEG. La glicina en el plasma se normalizó ya a los dos meses, y en el LCR se redujo considerablemente, aunque con proporciones LCR/plasma todavía altas. Actualmente, el paciente tiene 4 años, nunca ha tenido convulsiones, los EEG siempre han sido normales y sigue con BZ, DTM, carnitina y dieta. Ha presentado una gran hipermotricidad, pero, actualmente está más atento y es más sociable, camina desde los 35 meses y tiene un cociente en las distintas áreas del desarrollo de 40-50. Conclusión. Parece aceptable la evolución clínica seguida por nuestro paciente, por lo que recomendamos siempre instaurar precozmente el tratamiento tras este diagnóstico (AU)

Introduction. Non-ketotic hyperglycinemia is a congenital error in the breakdown of glycine. The most common type is the classical neonatal form, which begins at the age of a few days with symptoms of lethargy, hypotonia, myoclonia, convulsions, apneas and, frequently, ends in death. Survivors usually develop intractable epilepsy and mental retardation. There is no effective treatment for this condition, but trials have been carried out with a therapy that diminishes the levels of glycine, benzoate (BZ), and another that blocks the excitatory effect in N-methyl-D-aspartate receptors: dextromethorphan (DTM). Case report. We report on the progress of a classical neonatal case, which began at the age of a few hours with hypotonia and stupor, without myoclonias or seizures, but with a suppression wave trace on the electroencephalogram (EEG). Cerebrospinal fluid (CSF) showed glycine levels of 141 µmol/L (the normal level is 6.66 ± 2.66 µmol/L), with a CSF/plasma ratio of 0.19 (the normal ratio is < 0.02). Treatment was started on the thirteenth day with BZ and DTM, and alertness and eye fixation improved in just three days; at the same time the EEG readings become normal. The glycine level in plasma returned to normal at two months and that in CSF was considerably reduced, although with CSF/plasma levels that were still high. At present the patient is 4 years old, has never had convulsions, EEG results have always been normal, and continues with BZ, DTM, carnitine and diet. The patient has presented a high degree of hypermotoric behaviour, but is currently more attentive and more sociable, has been walking from the age of 35 months and has a quotient in the different areas of development of 40-50. Conclusions. The clinical progress made by our patient could be said to be anything but negligible, and we therefore recommend that treatment should be started as early as possible after diagnosis (AU)

Gráficos de crecimiento de la población española con neurofibromatosis tipo 1 / Growth charts for the Spanish population with neurofibromatosis type 1

Objetivo. Realizar los gráficos de crecimiento para la talla y el perímetro cefálico de los pacientes pediátricos españoles afectados de neurofibromatosis tipo 1 (NF1), compararlos con los de la población sana y revisar las posibles causas de sus alteraciones. Pacientes y métodos. Se obtuvieron los datos de 251 pacientes españoles (122 mujeres y 129 hombres) con NF1 vistos en siete hospitales españoles, entre los años 2000 y 2002, con edades comprendidas entre 1 mes y 18 años. El cálculo del percentil 50 o mediana se realizó por el método de variables móviles, y, a partir del mismo, se calcularon los percentiles 3 y 97. Los gráficos de la población afectada con NF1 se compararon con los de la población española sana. Resultados. Las mujeres con NF1 presentan una talla más baja que las mujeres sanas, lo que se evidencia fundamentalmente a partir de los 10 años de edad. No hemos observado diferencias en la talla entre los varones sanos y los afectados. En ambos sexos, el perímetro cefálico es mayor en los pacientes afectados con NF1 durante toda su vida, de modo que el percentil 50 de los niños sanos se corresponde aproximadamente con el percentil 3 de los afectados, el 97 de los sanos, con el 50 de las afectados, el percentil 3 de los sanos se encuentra muy por debajo del 3 de los afectados, y el percentil 97 de los afectados, muy por encima del de los sanos. Conclusiones. La baja talla observada en las mujeres pospúberes de nuestra serie y la macrocefalia, presente en ambos sexos a todas las edades, constituyen características primarias en la NF1 y no suelen relacionarse con otras alteraciones, aunque no son específicas de esta enfermedad (AU)

Objective. To make the charts of stature and head circumference of Spanish pediatric patients affected with neurofibromatosis type 1 (NF1), to compare them with the ones from a healthy population and to review the possible causes of its alterations. Patients and methods. We obtained the data from 251 Spanish patients (122 women and 129 men) with NF1 seen in seven hospitals between the years 2000 and 2002, with ages between 1 month and 18 years old. The calculation of the 50th centile or median was done using the method of mobile variables, and the 3rd and 97th centiles where calculated from this median. Results. Girls with NF1 have a shorter stature than the healthy ones, which becomes evident after 10 years of age. We have not found differences in the stature between boys with the disease and those without it. In regards to head circumference, in boys and girls we have observed that it is bigger throughout life in patients affected with NF1, and that the 50th centile of healthy people correlates with the 3rd centile of those affected, the 97th centile of the healthy ones with the 50th centile of those affected, being the 3rd centile of the healthy people well below the 3rd centile of the affected ones, and the 97th centile of the affected ones well above the 97th of the healthy people. Conclusions. The short stature in postpuberal girls and the macrocephaly in both sexes at all ages, are primary characteristics in the NF1 and they are not usually related with other alterations, although they are not specific for this illness (AU)