El Cuestionario de Capacidades y Dificultades (SDQ) como herramienta de cribado para el Trastorno por Déficit de Atención e Hiperactividad / The Strengths and Difficulties Questionnaire (SDQ) as a screening tool for Attention Deficit and Hyperactivity Disorder

INTRODUCCIÓN: El Trastorno por déficit de atención e hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo más prevalentes en la infancia y motivo de consulta frecuente en Atención Primaria. OBJETIVO: Valorar si el Cuestionario de capacidades y dificultades (SDQ) es una herramienta útil para discriminar a niños con TDAH de niños sin esta patología, con el propósito de optimizar las derivaciones a Atención Especializada. MÉTODOS: Estudio observacional descriptivo prospectivo, autorizado por el Comité de Ética de Investigación de Galicia. Se incluyeron 305 sujetos entre 4 y 16 años, siendo reclutados 226 pacientes en salud mental y 79 en pediatría. RESULTADOS: La versión del SDQ para padres alcanzó globalmente una sensibilidad y especificidad mayores que la versión para profesores o la autoevaluada. En la versión para padres obtuvimos una sensibilidad del 81,00% (IC95% 72,81-89,19), con una especificidad del 53,66% (IC95% 46,59-60,73) y un área bajo la curva de 0,71 (IC95% 0,65-0,77). La sensibilidad alcanzada fue superior (en las diferentes versiones del SDQ, según el sexo y la edad) cuando analizamos los datos con un punto de corte de 6 puntos. CONCLUSIONES: El SDQ es una herramienta útil para discriminar a niños con TDAH en una población española. Este cuestionario podría facilitar la valoración de los niños con sintomatología compatible con TDAH en Atención Primaria, previa a su derivación a Atención Especializada. La detección precoz de los trastornos del neurodesarrollo repercutirá positivamente en la calidad de vida de nuestros pacientes y sus familias

BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent neurodevelopmental disorders in childhood and a reason for frequent consultation in primary care. OBJECTIVE: To assess whether the Strengths and Difficulties Questionnaire (SDQ) is a useful tool to discriminate children with ADHD from children without this condition, with the purpose of optimizing referrals to Specialized Care. METHOD: Prospective descriptive observational study, authorized by the Research Ethics Committee of Galicia. We included 305 subjects between 4 and 16 years, 226 patients were recruited in mental health and 79 in pediatrics. RESULTS: The version of the SDQ for parents globally reached a greater sensitivity and specificity than the version for teachers or the self-evaluated one. In the parent version we obtained a sensitivity of 81.00% (95% CI 72.81-89.19), with a specificity of 53.66% (95% CI 46.59-60.73) and an area under the curve of 0.71 (95% CI 0.65-0.77). The sensitivity reached was higher (in the different versions of the SDQ, according to sex and age) when we analyzed the data with a cut-off point of 6 points. CONCLUSIONS: The SDQ is a useful tool to discriminate children with ADHD in a Spanish population. This questionnaire could facilitate the assessment of children with symptoms compatible with ADHD in Primary Care, after referral to Specialized Care. The early detection of neurodevelopmental disorders will have a positive impact on the quality of life of our patients and their families

Asociación del espectro autista con patología mitocondrial / Association between autistic spectrum and mitochondrial pathology

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[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene]. / Deficit de piruvato deshidrogenasa asociado a la mutacion C515T en el exon 6 del gen E1alpha.

INTRODUCTION: Pyruvate dehydrogenase (PDH) deficiency constitutes the most frequent metabolic origin of congenital lactic acidosis and is also responsible for a less usual form, found exclusively in females, which leads to a dysmorphic syndrome accompanied by severe cerebral malformations. The most common defect affects fraction E1alpha (gene Xp22.1-22.2). AIM: To report the case of a young female with PDH deficiency, dysmorphic syndrome, cerebral deformations and an unidentified mutation in the corresponding gene. CASE REPORT: An 8-month-old female with microcephaly, a narrow forehead, nasal hypoplasia, anteverted nostrils, thin lips, axial hypotonia, epileptic seizures and an umbilical hernia. Magnetic resonance imaging of the brain revealed intense supra- and infratentorial cortico-subcortical atrophy, ventricular dilatation and agenesis of the corpus callosum. Lactic and pyruvic acid concentrations were high both in blood and in cerebrospinal fluid (CSF), and the level of alanine was high in CSF. Muscular histology results were normal. PDH complex activity in fibroblasts and in muscle tissue, as well as that of the mitochondrial respiratory chain complexes in muscle homogenate, were found to be normal. A molecular genetic study of the gene for PDHE1alpha, both in formed elements in the blood and in fibroblasts, showed a C > T change in nucleotide 515 (C515T) of exon 6, which causes a P172L change in the protein. A study of 108 controls ruled out the possibility of a polymorphism. The parents did not have the mutation. CONCLUSIONS: The C515T mutation of exon 6 of the gene for PDH E1alpha is described. Normal activity of the PDH complex in fibroblasts and in muscle tissue does not exclude this condition.

Deficit de piruvato deshidrogenasa asociado a la mutación C515T en el exon 6 del gen E1 / Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1 gene

Introducción. La deficiencia de piruvato deshidrogenasa(PDH) constituye la base metabólica más frecuente de las acidosislácticas congénitas y también es responsable de una forma menoshabitual, exclusiva del sexo femenino, que cursa con un síndromedismórfico asociado a graves malformaciones cerebrales. El defectomás común afecta a la fracción E1α (gen Xp22.1-22.2). Objetivo.Presentar el caso de una niña con deficiencia de PDH, síndromedismórfico, malformaciones cerebrales y una mutación no descritaen el gen correspondiente. Caso clínico. Niña de 8 meses deedad con microcefalia, frente estrecha, hipoplasia nasal, narinasantevertidas, labios finos, hipotonía axial, crisis epilépticas y herniaumbilical. La resonancia magnética cerebral evidenció unaatrofia corticosubcortical intensa supra e infratentorial, dilataciónventricular y agenesia del cuerpo calloso. Las concentraciones deácido láctico y pirúvico estaban elevadas en la sangre y el líquidocefalorraquídeo (LCR), y la de alanina estaba elevada en el LCR.La histología muscular fue normal. La actividad del complejo de laPDH en los fibroblastos y en el músculo, así como la de los complejosde la cadena respiratoria mitocondrial en homogenado muscular,fueron normales. El estudio genético molecular del gen parala PDH E1α, tanto en elementos formes de la sangre como en fibroblastos,demostró un cambio C > T en el nucleótido 515 (C515T)del exón 6, que causa un cambio P172L en la proteína. El estudio de108 controles descartó que se tratase de un polimorfismo. Los padresno presentaban la mutación. Conclusiones. Se describe la mutaciónC515T en el exón 6 del gen para la PDH E1α. La actividadnormal del complejo de la PDH en los fibroblastos y en el músculono excluye esta entidad

Introduction. Pyruvate dehydrogenase (PDH) deficiency constitutes the most frequent metabolic origin of congenitallactic acidosis and is also responsible for a less usual form, found exclusively in females, which leads to a dysmorphicsyndrome accompanied by severe cerebral malformations. The most common defect affects fraction E1α (gene Xp22.1-22.2).Aim. To report the case of a young female with PDH deficiency, dysmorphic syndrome, cerebral deformations and anunidentified mutation in the corresponding gene. Case report. An 8-month-old female with microcephaly, a narrow forehead,nasal hypoplasia, anteverted nostrils, thin lips, axial hypotonia, epileptic seizures and an umbilical hernia. Magneticresonance imaging of the brain revealed intense supra- and infratentorial cortico-subcortical atrophy, ventricular dilatationand agenesis of the corpus callosum. Lactic and pyruvic acid concentrations were high both in blood and in cerebrospinalfluid (CSF), and the level of alanine was high in CSF. Muscular histology results were normal. PDH complex activity infibroblasts and in muscle tissue, as well as that of the mitochondrial respiratory chain complexes in muscle homogenate, werefound to be normal. A molecular genetic study of the gene for PDH E1α, both in formed elements in the blood and infibroblasts, showed a C > T change in nucleotide 515 (C515T) of exon 6, which causes a P172L change in the protein. A studyof 108 controls ruled out the possibility of a polymorphism. The parents did not have the mutation. Conclusions. The C515Tmutation of exon 6 of the gene for PDH E1α is described. Normal activity of the PDH complex in fibroblasts and in muscletissue does not exclude this condition

[Benign idiopathic external hydrocephalus (benign subdural collection) in 39 children: its natural history and relation to familial macrocephaly]. / Hidrocefalia externa idiopática benigna (efusión subdural benigna) en 39 niños: evolución natural y relación con la macrocefalia familiar.

INTRODUCTION: Benign idiopathic external hydrocephalus (BIEH) is an age-dependent disorder that is self-limiting in time and has an uncertain aetiology. PATIENTS AND METHODS: A retrospective study was conducted involving 39 patients (16 girls and 23 boys) with BIEH. The following data were analysed for each patient: age, sex, family history, history concerning pregnancy, childbirth and neonatal period, postnatal history, data from clinical records and from physical examinations, progress of psychomotor development, findings from the first and successive neuroimaging studies, results of other complementary examinations, clinical and neuroimaging situation at the last check-up that was carried out, length of clinical control, age at which subdural effusion disappeared, and any other relevant associated facts. RESULTS: Age at diagnosis ranged from 1.33 and 25 months (mean: 8.4 months); in 38.46% of cases there was a history of macrocephalia in one of the progenitors; in four of them the presence of congenital macrocephalia was noted; in five, there was motor retardation and one of them displayed psychomotor retardation; in 15, there was an association with a slight dilatation of the lateral ventricles; the mean time of clinical control was 3.36 years; the process was seen to resolve in 14 cases; the minimum age for the disappearance of the subdural effusion was 9 months and the maximum was 8 years; macrocephalia persisted until the clinical control ended in 22 of the cases. We also noted the presence of two cases of mitochondrial encephalomyopathy, one craniosynostosis of the sagittal suture, one microdeletion 22q11.2, one a-1 antitrypsin deficiency, and one case of idiopathic bilateral congenital palpebral ptosis. CONCLUSIONS: The subdural effusion and/or macrocephalia persist in a high percentage of these patients and sometimes there is a close relationship between this condition and benign familial macrocephalia. Despite its benignity, it can influence psychomotor or motor retardation and behavioural disorders. On rare occasions it may be associated to mitochondrial encephalomyopathy and to the microdeletion 22q11.2.

Hidrocefalia externa idiopática benigna (efusión subdural benigna) en 39 niños: evolución natural y relación con la macrocefalia familiar / Benign idiopathic external hydrocephalus (benign subdural collection) in 39 children: natural history and relationship to familial macrocephaly

Introducción. La hidrocefalia externa idiopática benigna (HEIB) es un trastorno dependiente de la edad, autolimitado en el tiempo y de etiología incierta. Pacientes y métodos. Se llevó a cabo un estudio retrospectivo de 39 pacientes, 16 niñas y 23 niños, con HEIB, en los que se analizaron los siguientes datos: edad, sexo, antecedentes familiares, antecedentes del embarazo, el parto y el período neonatal, antecedentes posneonatales, datos de la historia clínica y de la exploración física, evolución del desarrollo psicomotor, hallazgos de la primera y sucesivas pruebas de neuroimagen, resultados de otras exploraciones complementarias, situación clínica y de neuroimagen en el último control realizado, tiempo de control clínico, edad a la que desapareció la efusión subdural, y otros hechos relevantes asociados. Resultados. La edad en el momento del diagnóstico osciló entre 1,33 y 25 meses (media: 8,4 meses); en el 38,46% existía el precedente de macrocefalia en alguno de los progenitores; en cuatro se observó la presencia de macrocefalia congénita; en cinco se detectó la presencia de retraso motor, y en uno, de retraso psicomotor; en 15 se asociaba una ligera dilatación de los ventrículos laterales; el tiempo medio de control clínico fue de 3,36 años; se observó la resolución del proceso en 14; la edad mínima para la desaparición de la efusión subdural fue de 9 meses, y la máxima, de 8 años; la macrocefalia persistió al final del control clínico en 22 niños; resalta la presencia de una encefalomiopatía mitocondrial en dos, de craneosinostosis de la sutura sagital en uno, de microdeleción 22q11.2 en otro, de deficiencia de -1 antitripsina en otro, y ptosis palpebral congénita bilateral idiopática en otro. Conclusiones. En un alto porcentaje de los pacientes persiste la efusión subdural y/o la macrocefalia; en ocasiones existe una estrecha relación entre esta entidad y la macrocefalia familiar benigna; a pesar de su benignidad, puede condicionar retraso psicomotor o motor y trastornos conductuales; de forma excepcional, se puede asociar a una encefalomiopatía mitocondrial y a la microdeleción 22q11.2

Introduction. Benign idiopathic external hydrocephalus (BIEH) is an age-dependent disorder that is self-limiting in time and has an uncertain aetiology. Patients and methods. A retrospective study was conducted involving 39 patients (16 girls and 23 boys) with BIEH. The following data were analysed for each patient: age, sex, family history, history concerning pregnancy, childbirth and neonatal period, postnatal history, data from clinical records and from physical examinations, progress of psychomotor development, findings from the first and successive neuroimaging studies, results of other complementary examinations, clinical and neuroimaging situation at the last check-up that was carried out, length of clinical control, age at which subdural effusion disappeared, and any other relevant associated facts. Results. Age at diagnosis ranged from 1.33 and 25 months (mean: 8.4 months); in 38.46% of cases there was a history of macrocephalia in one of the progenitors; in four of them the presence of congenital macrocephalia was noted; in five, there was motor retardation and one of them displayed psychomotor retardation; in 15, there was an association with a slight dilatation of the lateral ventricles; the mean time of clinical control was 3.36 years; the process was seen to resolve in 14 cases; the minimum age for the disappearance of the subdural effusion was 9 months and the maximum was 8 years; macrocephalia persisted until the clinical control ended in 22 of the cases. We also noted the presence of two cases of mitochondrial encephalomyopathy, one craniosynostosis of the sagittal suture, one microdeletion 22q11.2, one -1 antitrypsin deficiency, and one case of idiopathic bilateral congenital palpebral ptosis. Conclusions. The subdural effusion and/or macrocephalia persist in a high percentage of these patients and sometimes there is a close relationship between this condition and benign familial macrocephalia. Despite its benignity, it can influence psychomotor or motor retardation and behavioural disorders. On rare occasions it may be associated to mitochondrial encephalomyopathy and to the microdeletion 22q11.2

[Mitochondrial encephalomyopathies and West's syndrome: a frequently underdiagnosed association]. / Encefalomiopatías mitocondriales y síndrome de West: una asociación frecuentemente infradiagnosticada.

INTRODUCTION: West's syndrome is known to have symptomatic, cryptogenetic and idiopathic forms. Greater knowledge of the different pathologies and the development of new diagnostic techniques have allowed the list of symptomatic forms to be extended and congenital disorders of the metabolism account for a significant percentage as an aetiopathogenic factor. Yet, although it is known that mitochondrial cytopathies can trigger the development of West's syndrome, few reports exist concerning their association. AIMS: Our aim in this paper is to report on four cases of West's syndrome in which a mitochondrial cytopathy was shown to be an aetiopathogenic factor. CASE REPORTS: Two females and two males aged between 2 and 10 months, who were suffering from West's syndrome. Biochemical and neuroimaging findings suggested a possible mitochondrial cytopathy, which was later confirmed in the four cases on observing a partial deficiency of some of the complexes of the mitochondrial respiratory chain in muscles; this was found to be simple in the first three (complexes III, I and IV, respectively) and combined in the fourth (complexes I and IV). CONCLUSIONS: Infantile spasms should be considered as one of the ways mitochondrial encephalomyopathies manifest themselves. As part of the process of diagnosing West's syndrome, we recommend tests be carried out to determine the levels of lactic and pyruvic acid, carnitine and amino acids in plasma, and possibly in the cerebrospinal fluid, as well as those of amino acids and organic acids in urine. A muscular biopsy must also be carried out in patients who are strongly suspected of having a mitochondrial cytopathy, as well as the corresponding molecular genetic study.

[Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype]. / Síndrome de Smith-Magenis: aportación de dos nuevos casos y aproximación a su característico fenotipo conductual.

INTRODUCTION: Smith-Magenis syndrome (SMS) is a well defined contiguous gene syndrome that is caused by an interstitial deletion in the 17p11.2 region. It is characterised by the presentation of characteristic facial features, brachydactylia, short stature, varying degrees of mental retardation, occasional neuropathy and a specific behavioural phenotype that points to this entity. AIMS: Our aim was to report the cases of two children with SMS and carry out an approximation towards their characteristic behavioural phenotype. CASE REPORTS: We studied the cases of two 12-year-old children who were suspected of suffering from SMS following the findings of a physical exploration and the presence of a specific behavioural phenotype. This was confirmed by the genetic-molecular study which proved the existence of the 17p11.2 deletion. CONCLUSIONS: Although SMS is a relatively infrequent syndrome, a patient with mental retardation and characteristic dysmorphic features who presents an especially relevant behavioural disorder including different stereotypic movements, aggression phenomena and sleep disorders is suggestive of this diagnostic possibility.

[Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome]. / Hipomelanosis de Ito. Un síndrome neurocutáneo heterogéneo y posiblemente infradiagnosticado.

INTRODUCTION: Hypomelanosis of Ito (HI) or incontinentia pigmenti achromians is a multisystemic neurocutaneous disorder that is associated to neurological complications in a high percentage of patients. AIMS: The purpose of this study is to review the most significant features in a series of 14 patients with HI. PATIENTS AND METHODS: We conducted a retrospective study in which the following data were analysed: age, sex, familial and personal history, clinical features and complementary explorations that were carried out. We report the cases of nine females and five males aged between 4 months and 14 years. RESULTS: All the patients presented neurological anomalies, including psychomotor or mental retardation in 11 (associated to autistic behaviour in two of them), neuroradiological anomalies in seven, microcephalus in three and epileptic seizures in two. Other significant complications were musculoskeletal and ocular anomalies (each of which were present in nine patients), dental disorders in six, coarse facies and dysmorphic ears in four patients, hypoacusis in five and congenital heart disease in two. The following were also observed, but as isolated events: choanal atresia, cleft palate, segmental dilatation of the colon, cryptorchidism, inguinal hernia, low height, vesicoureteral reflux and premature pubarche. CONCLUSIONS: There is no biological marker that identifies HI and a number of clinical forms only appear in the skin in a very mild form, which means they sometimes going unnoticed or are not considered to be important enough to establish a diagnosis. This entity may, therefore, be more frequent than we think and its prevalence is perhaps underestimated.

Hipomelanosis de Ito. Un síndrome neurocutáneo heterogéneo y posiblemente infradiagnosticado / Hypomelanosis of ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome

Introducción. La actividad paroxística en la epilepsia del lóbulo temporal medial tiene su origen en la región hipocámpica o parahipocámpica. Esta actividad puede registrarse directamente por medio de electrodos de foramen oval. Esta actividad paroxística tendrá su origen tanto en la región irritativa como en la de comienzo ictal. Sin embargo, la relación entre ambas es todavía objeto de debate. Objetivo. Se describe un modelo simple que permite el análisis directo de las relaciones anatomofuncionales entre los orígenes de la actividad interictal e ictal. Resultados. a) El modelo matemático permite el ajuste con un mínimo error y con gran precisión de fuentes de voltaje originadas por monopolos; b) Este ajuste se consigue con una matriz cuya distancia internodal es de 0,1mm (300 × 200 puntos) ;c) El ajuste de tripletes de potenciales con fuentes de voltaje dobles y, especialmente, dipolares produce errores en el ajuste que no se observan al utilizar el modelo monopolar; d)El ajuste a los datos reales obtenidos de un paciente muestra una gran precisión, con errores de la actividad interictal de 0,29 ñ 0,17 por ciento, mientras que para dos episodios ictales están en 0,54 ñ 1,22 y 2,84 ñ 3,00 por ciento (media ñ DE). Conclusiones. Se trata de un modelo que permite conocer directamente las relaciones relativas anatomofuncionales entre actividades interictales e ictales, lo que tiene importantes implicaciones, tanto fisiopatológicas como pronósticas y terapéuticas (AU)

Introduction. Hypomelanosis of Ito (HI) or incontinentia pigmenti achromians is a multisystemic neurocutaneous disorder that is associated to neurological complications in a high percentage of patients. Aims. The purpose of this study is to review the most significant features in a series of 14 patients with HI. Patients and methods. We conducted a retrospective study in which the following data were analysed: age, sex, familial and personal history, clinical features and complementary explorations that were carried out. We report the cases of nine females and five males aged between 4 months and 14 years. Results. All the patients presented neurological anomalies, including psychomotor or mental retardation in 11 (associated to autistic behaviour in two of them), neuroradiological anomalies in seven, microcephalus in three and epileptic seizures in two. Other significant complications were musculoskeletal and ocular anomalies (each of which were present in nine patients), dental disorders in six, coarse facies and dysmorphic ears in four patients, hypoacusis in five and congenital heart disease in two. The following were also observed, but as isolated events: choanal atresia, cleft palate, segmental dilatation of the colon, cryptorchidism, inguinal hernia, low height, vesicoureteral reflux and premature pubarche. Conclusions. There is no biological marker that identifies HI and a number of clinical forms only appear in the skin in a very mild form, which means they sometimes going unnoticed or are not considered to be important enough to establish a diagnosis. This entity may, therefore, be more frequent than we think and its prevalence is perhaps underestimated (AU)

Hipotonía mixta, regresión neurológica y atrofia cerebelosa: manifestaciones sugestivas de distrofia neuroaxonal infantil / Mixed hypotonia, neurological regression and atrophy of the cerebellum: manifestations that suggest infantile neuroaxonal dystrophy

Introducción. La distrofia neuroaxonal infantil (DNAI) o enfermedad de Seitelberger, es una enfermedad neurodegenerativa de causa desconocida, transmisible bajo un patrón hereditario autosómico recesivo. Clínicamente, cursa con estancamiento psicomotor y posterior regresión, de inicio en el primer o segundo año de vida, asociado a hipotonía de semiología mixta (segmentaria y suprasegmentaria) que progresa a una tetraplejía espástica, atrofia óptica y demencia progresivas; la muerte sobreviene hacia el final de la primera década de la vida. Objetivos. Presentar un niño de 30 meses de edad con DNAI, en el que se descartó una citopatía mitocondrial y una deficiencia de la enzima Alfa -N-acetil-galactosaminidasa. Caso clínico. Varón de 30 meses de edad, con un retraso inicial de adquisiciones psicomotoras de forma global, con posterior regresión. En la exploración física presentó afectación neurológica grave con hipotonía mixta, hipotrofia muscular con debilidad generalizada y leve nistagmo horizontal bilateral. En las exploraciones complementarias destacó en la neuroimagen un leve aumento del espacio subaracnoideo, con atrofia del vermis y los hemisferios cerebelosos. Las pruebas neurofisiológicas -electromiografía (EMG) y electroneurografía (ENG)- fueron normales inicialmente; pero, más tarde, la EMG mostró signos de denervación, y la ENG, una disminución de la amplitud de las respuestas motoras, con preservación de la velocidad de conducción. Histológicamente, se demostró la presencia de axones con un axoplasma expandido que contenía las típicas inclusiones tubulovesiculares. Conclusión. El cuadro clínico de nuestro paciente cumple todos los criterios diagnósticos de DNAI, y se encuadra en una forma clásica de la enfermedad. La DNAI debe considerarse ante: 1) Clínica de estancamiento y posterior regresión del desarrollo psicomotor antes del segundo año de vida; 2) Hipotonía, atrofia muscular y arreflexia global inicial, con evolución posterior hacia un cuadro de piramidalismo; 3) Hallazgos electromiográficos iniciales normales, con signos posteriores de denervación; 4) Atrofia cerebelosa (hemisferios y vermis); 5) Déficit visual, y 6) Demostración histopatológica de hallazgos característicos (AU)

Introduction. Infantile neuroaxonal dystrophy (INAD), or Seitelberger disease, is a neurodegenerative disease of unknown origin which is transmitted by autosomal recessive inheritance. Clinically, it courses with psychomotor stagnation and regression that begins at the age of one or two years, associated to hypotonia with mixed clinical features (segmentary and suprasegmentary) that progresses towards spastic tetraplegia and progressive optic atrophy and dementia; this leads to death before the age of ten years. Aims. To present the case of a 30-month-old child with INAD, in whom α-N-acetylgalactosaminidase deficiency and mitochondrial cytopathy were ruled out. Case report. Male aged 30 months with an initial overall retardation, and later regression, of psychomotor acquisitions. In the physical exploration the patient displayed serious neurological involvement with mixed hypotonia, muscular hypotrophy with generalised weakness and mild bilateral horizontal nystagmus. Complementary explorations with neuroimaging revealed a slight increase in the subarachnoid space, with atrophy of the vermis and cerebellar hemispheres. Neurophysiological tests (EMG and ENG), which were initially normal, later showed signs of denervation in the EMG, and the ENG revealed a decreased amplitude of motor responses, with preservation of conduction speed. Histological tests showed the presence of axons with axoplasm expanded by the inclusion of typical tubulovascular structures. Conclusion. The clinical features of our patient met all the criteria to satisfy a diagnosis of INAD, and he displayed a classic form of the disease. INAD must be considered when the clinician is faced with: 1. A clinical picture of stagnation and later regression of psychomotor development before the age of two years; 2. Hypotonia, muscular atrophy and initial overall areflexia, with later progression towards pyramidalism; 3. Initially normal EMG findings, with later signs of denervation; 4. Cerebellar atrophy (hemispheres and vermis); 5. Visual deficit, and 6. Histopathological proof of characteristic findings (AU)

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[Benign congenital myopathy associated with a partial deficiency of complexes I and III of the mitochondrial respiratory chain]]. / Miopatía congénita benigna asociada a deficiencia parcial de los complejos I y III de la cadena respiratoria mitocondrial.

INTRODUCTION: Isolated or combined enzyme deficiencies of the mitochondrial respiratory chain results in a number of clinical heterogeneous conditions. When presented in the neonatal period or early in the infancy the course is usually severe, although isolated cases with benign evolution have also been described. OBJECTIVE: To describe the clinical and biochemical characteristics of a child with a benign form of mitochondrial myopathy due to a combined deficiency of the complexes I and III of the respiratory chain. CLINICAL CASE: A 40 days-old male, the second son of a young non-consanguineous couple, presented with axial congenital hypotonia, asymmetrical macrocephaly, mild enlargement of the liver, mild coarsening of facial features, increased CK serum values, persistently elevation of serum lactate and lactate/pyruvate ratio and external hydrocephalus. Electromyogram and histological muscle examination were normal but analysis of the respiratory chain disclosed a deficiency of the complexes I and III. From 13 months-age onwards clinical detailed abnormalities progressively ameliorated and also did it serum CK, lactate and external hydrocephalus. CONCLUSION: We think that on clinical, basic biochemical and histological grounds there are some similarities between this case of congenital unspecific myopathy and benign reversible form of mitochondrial myopathy, arguing in favor of a possible relationship between both conditions.

Miopatía congénita benigna asociada a deficiencia parcialde los complejos I y III de la cadena respiratoria mitocondrial / Benign congenital myopathy associated with partial deficiency of complexes I and III of respiratory chain

Introducción. Las manifestaciones clínicas de las deficiencias aisladas o combinadas de los complejos enzimáticos de la cadena respiratoria mitocondrial son muy heterogéneas y, aunque en general, cuando debutan en el período neonatal o durante la infancia temprana suelen tener un curso clínico grave, se han descrito algunas observaciones aisladas con evolución benigna. Objetivo. Presentar las características clínicas y bioquímicas de un niño con miopatía mitocondrial de curso benigno, secundaria a deficiencia de los complejos I y III de la cadena respiratoria mitocondrial. Caso clínico. Niño de 40 días de vida, segundo hijo de padres jóvenes y no consanguíneos, con hipotonía axial congénita, macrocefalia asimétrica, ligera hepatomegalia, rasgos algo toscos, aumento de la CK sérica, hiperlactacidemia sostenida con láctico/pirúvico elevado, efusión subdural benigna, electromiografía e histopatología muscular normales; en el homogenado muscular se apreció deficiencia parcial de los complejos I y III de la cadena respiratoria mitocondrial. En los controles evolutivos se observó, a partir de los 13 meses, un desarrollo psicomotor adecuado para su edad con normalización progresiva de la hiperlactacidemia y de la CK sérica, así como desaparición de los rasgos toscos y de la efusión subdural benigna. Conclusión. Por los datos clínicos evolutivos, bioquímicos básicos e histológicos, creemos que la presente observación presenta un fenotipo compatible con la denominada miopatía congénita inespecífica o de cambios mínimos; pero, a su vez, también reúne criterios concordantes con miopatía mitocondrial congénita de evolución benigna, hecho que induce a pensar en una posible relación entre ambas entidades (AU)