Carmen Gómez-Lado

Hashimoto encephalopathy in a preschool girl.

Hashimoto encephalopathy is a steroid-responsive encephalopathy associated with elevated blood concentrations of antithyroid antibodies. The patients are usually euthyroid or mildly hypothyroid. The clinical picture is pleomorphic, presenting with variable symptoms ranging from behavioral and cognitive changes, myoclonus, seizures, pyramidal tract dysfunction, involuntary movements, and cerebellar signs to psychosis and coma, with relapsing and progressive course. The diagnosis is often overlooked at presentation but is crucial, given that this is a treatable disease. Described here, with a literature review, is the youngest patient reported to date with Hashimoto encephalopathy.

Convulsiones benignas durante gastroenteritis leve: a propósito de dos casos

Introduccion La presentacion de convulsiones benignas durante una gastroenteritis leve sin deshidratacion ni fiebre es una asociacion descrita con relativa frecuencia en Asia. Sin embargo, son escasas las referencias al tema fuera de dicho continente. Se trata de un proceso benigno que no implica un mayor riesgo de epilepsia ni de deterioro neuropsiquico. Casos clinicos Se describe el caso de dos ninas ingresadas en nuestro departamento en el ultimo ano por presentar convulsiones durante una gastroenteritis leve. En ambos casos las crisis fueron autolimitadas y la evolucion benigna. Conclusiones Esta entidad no se presenta exclusivamente en Asia y es probable que sea mas frecuente en nuestro medio de lo que se ha comunicado. Es importante tenerla presente ante un paciente con gastroenteritis y crisis convulsivas con el fin de evitar un tratamiento antiepileptico agresivo y/o prolongado.

The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity

We determined the serum concentration of biotin, zinc, antiepileptic drugs, and biotinidase enzyme activity in 20 children treated with valproic acid, in 10 children treated with carbamazepine, and in 75 age- and sex-matched healthy controls. There were no significant differences in the serum levels of biotin, and biotinidase enzyme activity between the patients treated with valproic acid, the patients treated with carbamazepine, and the control group. Zinc serum levels were lower in the patients treated with valproic acid and with carbamazepine than in the control group, but within the normal range. Hair loss was observed in 3 patients treated with valproic acid, with normal serum levels of biotin, zinc, and biotinidase activity, and the alopecia disappeared with the oral administration of biotin (10 mg/d) in 3 months. These results suggest that the treatment with valproic acid does not alter the serum levels of biotin, zinc, and biotinidase enzyme activity.

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome

We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. Review of the literature suggest that association of these two conditions is extremely rare. Despite the few cases reported, in our view Ohtahara syndrome should be considered as one of the forms of presentation of mitochondrial dysfunction.

Serum Biotinidase Activity in Children Treated With Valproic Acid and Carbamazepine

There is evidence that valproic acid causes a reduction of serum biotinidase enzyme activity. We determined the serum concentration of antiepileptic drugs, transaminases, γ-glutamyl transferase, ammonia, and biotinidase enzyme activity in 57 children treated with valproic acid, in 17 children treated with carbamazepine, and in 75 age- and sex-matched healthy controls. There were no significant differences in the serum biotinidase enzyme activity between the patients treated with valproic acid, the patients treated with carbamazepine, and the control group. Hyperammonemia was detected in 8 patients treated with valproic acid. Hair loss was observed in 3 female patients treated with valproic acid, and the alopecia disappeared with the oral administration of biotin (10 mg/ d) in 3 months. These results suggest that the treatment with valproic acid does not alter the serum biotinidase enzyme activity.

Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome.

abdominal pain in children. Ital J Gastroenterol 1997;/28:/ 462 9. [2] Corrado G, D’Eufemia P, Pacchiarotti C, Cavaliere M, Rea P, Frandina G, et al. Irritable oesophagus syndrome as cause of chronic cough. Ital J Gastroenterol 1996;/28:/526 30. [3] Kinsbourne M. Hiatus hernia with contortions of the neck. Lancet 1964;/1:/1058 61. [4] Murphy WJ, Gellis SS. Torticollis with hiatus hernia in infancy. Am J Dis Child 1977;/131:/564 5.

Juvenile Xanthogranuloma of the Cauda Equina

Juvenile xanthogranuloma is a form of histiocytic proliferative disorder that usually affects the skin and tends to occur during infancy. On rare occasions, it has been reported at extracutaneous sites and in other age groups. Isolated juvenile xanthogranuloma of the nervous system is extremely rare, especially in the cauda equina. A case of juvenile xanthogranuloma of the cauda equina in a 14-year-old boy is reported, and the literature is reviewed.

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.

The few proximal 4q chromosomal aberrations identified in patients with neurodevelopmental phenotypes that have been published to date are variable in type, size and breakpoints and, therefore, encompass different chromosome bands and genes, making the establishment of genotype–phenotype correlations a challenging task. Here, microarray‐based copy number analysis allowed us the detection of two novel and partially overlapping deletions in two unrelated families. In Family 1, a 4q13.1‐q13.2 deletion of 3.84 Mb was identified in a mother with mild intellectual disability and in her two children, both with mild intellectual disability and attention deficit hyperactivity disorder. In Family 2, a de novo 4q13.2‐q13.3 deletion of 6.81 Mb was detected in a female patient, born to unaffected parents, with a diagnosis of mild intellectual disability, behavioral disorder and facial dysmorphism. The shortest region of overlap between these two aberrations is located at chromosome 4q13.2 and includes 17 genes amongst of which we suggest UBA6 (ubiquitin‐like modifier‐activating enzyme 6) as a strong candidate gene for these phenotypes.

Copy number variation analysis of patients with intellectual disability from North-West Spain

Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-based copy number variation (CNV) analysis has been proved as a strategy particularly useful in the discovery of loci and candidate genes associated with these phenotypes and is widely used in the clinics with a diagnostic purpose. In this study, we evaluated the usefulness of two genome-wide high density SNP microarrays -Cytogenetics Whole-Genome 2.7M SNP array (n=126 patients; Group 1) and CytoScan High-Density SNP array (n=447 patients; Group 2)- in the detection of clinically relevant CNVs in a cohort of ID patients from Galicia (NW Spain). In 159 (27.7%) patients, we detected 186 rare exonic chromosomal imbalances, that were grouped into the following classes: Clinically relevant (67/186; 36.0%), of unknown clinical significance (93/186; 50.0%) and benign (26/186; 14.0%). The 67 pathogenic CNVs were identified in 64 patients, which means an overall diagnostic yield of 11.2%. Overall, we confirmed that ID is a genetically heterogeneous condition and emphasized the importance of using genome-wide high density SNP microarrays in the detection of its genetic causes. Additionally, we provided clinical and molecular data of patients with pathogenic or likely pathogenic CNVs and discussed the potential implication in neurodevelopmental disorders of genes located within these variants.

Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant

The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain, occasionally rhabdomyolysis, and idiopathic hyperCKemia. However, previous to the introduction of molecular techniques, rare cases with congenital weakness and hypotonia have also been reported. We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate deaminase, and the homozygous C to T mutation at nucleotide 34 of the adenosine monophosphate deaminase-1 gene. This observation indicates the possible existence of a primary adenosine monophosphate deaminase deficiency manifested by congenital muscle weakness and hypotonia.