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The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems, but non-specific symptoms render the diagnosis of the different CDG very challenging. Phosphomannomutase 2 (PMM2)-CDG is the most common CDG, but advances in genetic analysis have shown others to occur more commonly than previously thought. The present work reports the clinical and mutational spectrum of 25 non-PMM2 CDG patients. The most common clinical symptoms were hypotonia (80%), motor or psychomotor disability (80%) and craniofacial dysmorphism (76%). Based on their serum transferrin isoform profile, 18 were classified as CDG-I and 7 as CDG-II. Pathogenic variations were found in 16 genes (ALG1, ALG6, ATP6V0A2, B4GALT1, CCDC115, COG7, DOLK, DPAGT1, DPM1, GFPT1, MPI, PGM1, RFT1, SLC35A2, SRD5A3, and SSR4). Overall, 27 variants were identified, 12 of which are novel. The results highlight the importance of combining genetic and biochemical analyses for the early diagnosis of this heterogeneous group of disorders.

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Existe en la actualidad todavía mucha controversia en cuanto al origen de los quistes aracnoideos. En el caso de los quistes aracnoideos congénitos, la teoría más aceptada es aquella que explica cómo se forman a partir del desarrollo anómalo de la membrana aracnoidea, la cual se desdobla facilitando la acumulación de líquido cefalorraquídeo en su interior, dando lugar a un quiste. Esta teoría parece explicar el origen de los quistes aracnoideos de convexidad y silvianos, mientras que aquellos en otras localizaciones podrían ser debidos a otras causas. En el estudio anatomopatológico se aprecia que la pared de los quistes aracnoideos difiere poco de la membrana aracnoidea normal, pudiendo estar engrosada debido a un aumento de depósito de material colágeno. Exponemos el desarrollo embriológico normal de la aracnoides, las alteraciones que se producen en dicho desarrollo y que condicionan la formación de los quistes aracnoideos describiendo sus hallazgos anatomopatológicos más característicos

There is still great controversy surrounding the origin of the arachnoid cyst. The most accepted theory in the case of congenital cysts explains how they are formed from an anomalous development of the arachnoid membrane, which is unfolded allowing the accumulation of cerebrospinal fluid inside and creating a cyst. This theory seems to explain the origin of convexity and sylvian cistern arachnoid cysts, whereas those in other locations might be due to other mechanisms. In the anatomopathological analysis, the arachnoid cyst wall can be seen as having few differences from normal, although thickened due to an increase quantity of collagenous material

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There is still great controversy surrounding the origin of the arachnoid cyst. The most accepted theory in the case of congenital cysts explains how they are formed from an anomalous development of the arachnoid membrane, which is unfolded allowing the accumulation of cerebrospinal fluid inside and creating a cyst. This theory seems to explain the origin of convexity and sylvian cistern arachnoid cysts, whereas those in other locations might be due to other mechanisms. In the anatomopathological analysis, the arachnoid cyst wall can be seen as having few differences from normal, although thickened due to an increase quantity of collagenous material. A description of the embryological development of the arachnoid layer and cyst formation is presented, describing the main anatomopathological findings.

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Introducción. La encefalitis por anticuerpos contra el receptor de NMDA (N-metil D-aspartato) es una enfermedad relativamente frecuente, aunque infradiagnosticada hasta hace unos años. Cursa de manera predecible y de forma parecida en adultos y en niños, aunque existen ciertas diferencias; su asociación con tumores es menor. Caso clínico. Niña de 3 años que ingresó en nuestro hospital con un cuadro compatible con encefalitis aguda, por lo que se instauró tratamiento con aciclovir. Durante su ingreso alternó períodos de escasa respuesta a estímulos con períodos de agitación y progresó a mutismo completo, a lo que se sumaron problemas de sueño. Comenzó con crisis epilépticas, movimientos distónicos y alteraciones autonómicas. La resonancia magnética craneal mostró una leve atrofia cortical y el electroencefalograma un enlentecimiento generalizado del trazado de base. Las punciones lumbares fueron repetidamente normales desde el punto de vista citológico y bioquímico. Ante la tórpida evolución se inició tratamiento con metilprednisolona y posteriormente con inmunoglobulinas, sin mejoría. Tras confirmarse la positividad de los títulos de anticuerpos antirreceptor de NMDA en el líquido cefalorraquídeo y el suero, se administró ciclofosfamida, con mejoría progresiva de la sintomatología hasta su recuperación completa. Tras 10 meses de seguimiento sin tratamiento, no ha presentado recaídas y se ha descartado la presencia de tumores. Conclusiones. Ante un cuadro de encefalitis, asociado a alteraciones del comportamiento y movimientos anormales, es importante sospechar esta enfermedad, ya que un diagnóstico temprano y la instauración del tratamiento adecuado podrían mejorar su pronóstico (AU)

Introduction. Encephalitis due to NMDA receptors antibodies is a relatively common condition but it was under diagnosed until recently. It courses predictably and similarly in adults and children, although there are some differences, still less its association with tumours. Case report. A 3 years-old girl who was admitted to our hospital with symptoms compatible with acute encephalitis, so we started treatment with acyclovir. During admission she was alterning periods of poor response to stimuli with periods of agitation, and progressed to complete silence, adding sleep problems. She suffered epileptic seizures, dystonic movements and autonomic disturbances. Cranial MRI showed mild cortical atrophy and EEG generalized slowing of base tracing. Repeated samples of cerebral spinal fluid were normal from cytological and biochemical point of view. In view of the torpid evolution she began methylprednisolone therapy and later inmunoglobulins with no improvement. Upon confirmation of the positivity for NMDA receptors antibodies in cerebral spinal fluid and serum, cyclophosphamide was administered, with gradual improvement of symptoms until full recovery. After ten months of follow-up without treatment she has not presented relapses and has ruled out the presence of tumours. Conclusions. It is important to recognize encephalitis with behavioural changes and abnormal movements, because early diagnosis and the beginning of appropriate therapy could improve the prognosis (AU)

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