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

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[Pontocerebellar hypoplasia type 1: a case report]. / Hipoplasia pontocerebelosa tipo 1: aportación de un caso.

INTRODUCTION: Pontocerebellar hypoplasias constitute a group of hereditary neurodegenerative disorders of uncertain aetiopathogenesis. They have been reported as being associated with deficiencies of complexes in the mitochondrial respiratory chain (MRC) and with congenital disorders of glycosylation. On the basis of clinical and neuropathological criteria, two phenotypes can be distinguished in this condition. Pontocerebellar hypoplasia type 1 is characterised by hypoplasia of the pons and the cerebellum associated with the degeneration of the motor neurons in the anterior horn of the spinal cord. CASE REPORT: A 4-year-old female with symptoms of severe psychomotor retardation associated with microcephaly, important generalised hypotonia, muscle hypotrophy, contractions in the four limbs, absence of stretch reflex and epilepsy with onset in the neonatal period. Magnetic resonance imaging of the brain revealed pontocerebellar hypoplasia. An electroneuromyography showed a trace that was compatible with axonal neuropathy and a biopsy of the deltoid muscle revealed the existence of neurogenic muscular atrophy. In the MRC study conducted in muscle homogenate and in skin fibroblasts, complex IV values were found to be at the lower limits of what could be considered to be normal levels. Results of the genetic study for spinal muscular atrophy were negative. CONCLUSIONS: The case reported here could be included as a case of pontocerebellar hypoplasia type 1. MRC studies can be of interest in cases of pontocerebellar hypoplasia in order to explain the role it plays in this disorder.

Hipoplasia pontocerebelosa tipo 1: aportación de un caso / Pontocerebellar hypoplasia type 1: a case report

Introducción. Las hipoplasias pontocerebelosas son un grupo de trastornos neurodegenerativos hereditarios de etiopatogenia no aclarada. Se ha descrito su asociación con deficiencias de complejos de la cadena respiratoria mitocondrial (CRM) y con los trastornos congénitos de la glicosilación. Atendiendo a criterios clínicos y neuropatológicos se distinguen dos fenotipos en esta entidad. La hipoplasia pontocerebelosa tipo 1 se caracteriza por la hipoplasia del puente y del cerebelo asociada a la degeneración de las motoneuronas del asta anterior de la médula espinal. Caso clínico. Niña de 4 años que presentaba un retraso psicomotor grave asociado a microcefalia, una importante hipotonía generalizada, hipotrofia de masas musculares, contracturas en las cuatro extremidades, ausencia de reflejos de estiramiento y epilepsia de comienzo en el período neonatal. En la resonancia magnética cerebral se observó una hipoplasia pontocerebelosa. El estudio electromioneurográfico mostró un trazado compatible con neuropatía axonal y la biopsia del músculo deltoides una atrofia muscular neurogénica. En el estudio de la CRM en homogenado muscular y en fibroblastos cutáneos se detectaron unos valores del complejo IV en el límite bajo de la normalidad. El estudio genético de atrofia muscular espinal resultó negativo. Conclusiones. El caso descrito podría encuadrarse dentro de la hipoplasia pontocerebelosa tipo 1. El estudio de la CRM puede ser de interés en las hipoplasias pontocerebelosas con el fin de esclarecer su papel en este trastorno

Introduction. Pontocerebellar hypoplasias constitute a group of hereditary neurodegenerative disorders of uncertain aetiopathogenesis. They have been reported as being associated with deficiencies of complexes in the mitochondrial respiratory chain (MRC) and with congenital disorders of glycosylation. On the basis of clinical and neuropathological criteria, two phenotypes can be distinguished in this condition. Pontocerebellar hypoplasia type 1 is characterised by hypoplasia of the pons and the cerebellum associated with the degeneration of the motor neurons in the anterior horn of the spinal cord. Case report. A 4-year-old female with symptoms of severe psychomotor retardation associated with microcephaly, important generalised hypotonia, muscle hypotrophy, contractions in the four limbs, absence of stretch reflex and epilepsy with onset in the neonatal period. Magnetic resonance imaging of the brain revealed pontocerebellar hypoplasia. An electroneuromyography showed a trace that was compatible with axonal neuropathy and a biopsy of the deltoid muscle revealed the existence of neurogenic muscular atrophy. In the MRC study conducted in muscle homogenate and in skin fibroblasts, complex IV values were found to be at the lower limits of what could be considered to be normal levels. Results of the genetic study for spinal muscular atrophy were negative. Conclusions. The case reported here could be included as a case of pontocerebellar hypoplasia type 1. MRC studies can be of interest in cases of pontocerebellar hypoplasia in order to explain the role it plays in this disorder

Aspectos actuales de las miopatías congénitas estructurales / Present aspects of structural congenital myopathies

Las miopatías congénitas estructurales constituyen un grupo heterogéneo de enfermedades musculares en las que existe un trastorno ene l desarrollo de las miofibrillas. La denominación particular de cada una está definida por la alteración histológica específica. En muchas ocasiones existe cierto solapamiento clínico entre estas entidades y las denominadas miopatías metabólicas. Ocasionalmente la determinación sérica de creatina cinasa y la electromiografía pueden ser de escasa o nula ayuda para el diagnóstico. Con frecuencia existe un componente genético y la herencia puede ser autosómica dominante, autosómica recesiva y ocasionalmente ligada al cromosoma X. Los recientes avances en genética molecular han logrado localizar los genes responsables de algunas de estas entidades, y en ocasiones se ha identificado y caracterizado el gen y su producto. Estos avances tienen aplicaciones diagnósticas, tanto pre como postnatales, y ofrecen perspectivas futuras tanto para la elaboración de una clasificación patogenética, como para el desarrollo de nuevas alternativas terapéuticas. En la presente revisión se describen inicialmente las formas más frecuentes, y posteriormente se hace referencia a las que presentan cuerpos de inclusión intracitoplásmicos, a las miopatías denominadas raras y a las que están poco definidas (AU)

Structural congenital myopathies are a heterogeneous group of muscular diseases where they are disorders in the development of myofibrilles. Each characteristic denomination is defined by the specific histological alteration. Many times there is some clinical overlapping between these entities and the so called metabolic myopathies. Sometimes the measurement of serum levels of creatine-kinase and the electromyography may be of little or no help for diagnosis. There is frequently a genetic component, and heredity may be autosomal dominant, autosomal recessive, or occasionally linked to the X-chromosome. The recent advance sin molecular genetics have achieved to localize the genes responsible for some of these entities, and sometimes the gen and its product has been identified and characterized. These advances have diagnostic applications, as much prenatal as postnatal, and offer future prospects as much for the draw up of a new pathogenetic classification as for the development of a new pathogenetic classification as for the development of new therapeutical possibilities. In the present review are described in the first place the more frequent forms, and later those with intracytoplasmic inclusion bodies, the so called rare myopathies, and those little defined (AU)

Aspectos actuales de las distrofias musculares congénitas / Present features of congenital muscular dystrophies

Las distrofias musculares congénitas (DMC) constituyen un grupo heterogéneo de enfermedades musculares relativamente frecuentes y con herencia autosómica recesiva, que habitualmente debutan al nacimiento o en los primeros meses de vida por hipotonía, debilidad muscular, contracturas, electromiografía miopática y un patrón histológico muscular con hechos característicos de distrofia. Su gran diversidad clínica está determinada por el diferente grado de retraso en el desarrollo motor, por la discapacidad física, por la patología muscular específica subyacente y por la presencia o no de retraso mental. En los últimos años, al margen de haberse mapeado o identificado/caracterizado el gen en varias formas de DMC, se han definido los fundamentos clínicos y patológicos de un número no desdeñable de nuevos síndromes que cursan con DMC. Estas circunstancias han conducido a la elaboración de nuevas clasificaciones, fundamentándose unas en el conocimiento o no del respectivo gen, y otras en si cursan o no con retraso mental. Para su aproximación diagnóstica definitiva son fundamentales los siguientes hechos: a) existencia o no de participación del sistema nervioso central, en términos de un retraso mental grave y/o defectos cerebrales estructurales o bien afectación ocular; b) conocer la expresión de la proteína denominada merosina a nivel muscular; c) valorar la existencia de rigidez de la columna, de hipertrofias musculares o de laxitud distal. En la presente revisión se describe inicialmente las DMC en las que no existe retraso mental, y posteriormente aquellas que cursan con participación del sistema nerviosos central o bien con otros hechos asociados (AU)

Congenital muscular dystrophies(CMD) are a heterogeneous group of muscular diseases relatively frequent, of autosomical recesive heredity, that usually make their début at birth or in the first months of life with muscular weakness hypotonicity, contractures, myopathic electromyography, and a histological muscular picture with characteristic features of dystrophy. Its great clinical variety is determined by various degrees of delay in the motive development, physical inability, specific underliyng muscular pathology, and the presence or absence of mental retardation. In the last years, besides de mapping and identification of the responsible gen in various forms of CMD, it has been defined the clinical and pathological foundation of a significant number of new syndromes that present with CMD. These circumstances have lead to the drawing up of new classifications, based in the knowledge or ignorance of the respective gen, or if they have mental retardation or not. For they definitive diagnostic approach are essential the following facts: a) existence or absence of involvement of the central nervous system, in terms of severe mental retardation and/or structural cerebral defects, or eye defects; b) to know the expression of the protein merosine at muscular leves; c) to assess the presence of spine rigidity, muscular hypertrophies o distal hyperalasticity. In the present review are describe firstly the CMD without mental retardation, and secondly those with involvement of the central nervous system or with other associated facts (AU)

[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.

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

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 a 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.

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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[Multiple symmetric lipomatosis associated to polyneuropathology, atrophy of the cerebellum and mitochondrial cytopathy]. / Lipomatosis simétrica múltiple asociada a polineuropatía, atrofia de cerebelo y citopatía mitocondrial.

INTRODUCTION: Multiple symmetric lipomatosis (MSL), which is predominantly found in middle aged males, is characterised by accumulations of fat in the neck, shoulders and other parts of the trunk, and sometimes associated with different neurological manifestations, both central and peripheral. Although its aetiology is unknown, it has been described as associated with mitochondrial cytopathies. AIMS. To describe the case of a young female with MSL associated with mitochondrial encephalomyopathy. CASE REPORT: Girl aged 14 with MSL, ataxia, patellar hyperreflexia, bilateral Babinski sign, pes cavus, axonal peripheral neuropathy, involvement of the optic pathway, atrophy of the cerebellum, subsarcolemmal mitochondrial accumulations in the untrastructural examination of the vastus lateralis muscle and partial deficit of complex I in the mitochondrial respiratory chain. As regards molecular genetic aspects, the most frequent mutations of the ATPase 6 gene in lymphocytes, and mtDNA deletions and tRNALys and tRNALeu(UUR) mutations in muscles were excluded. CONCLUSIONS: Despite the fact that MSL is an entity normally found in adults, the possibility of its being diagnosed in the paediatric age must be taken into account. This case is probably the second time MSL has been observed associated with mitochondrial cytopathy in this age bracket.

Lipomatosis simétrica múltiple asociada a polineuropatía, atrofia de cerebelo y citopatía mitocondrial / Multiples symmetric lipomatosis associated to polyneuropathology, atrophy of the cerebellum and mitochondrial cytopathy

Introducción. La lipomatosis simétrica múltiple (LSM), de predominio en varones de mediana edad, se caracteriza por acúmulos de grasa en el cuello, los hombros y otras partes del tronco, y se asocia, en ocasiones, a diferentes manifestaciones neurológicas, tanto centrales como periféricas. A pesar de que su etiología se desconoce, se ha descrito su asociación con citopatías mitocondriales. Objetivo. Describir el caso de una niña con LSM asociada a encefalomiopatía mitocondrial. Caso clínico. Niña de 14 años con LSM, ataxia,hiperreflexia rotuliana, Babinski bilateral, pies cavos, neuropatía periférica axonal, afectación de la vía óptica, atrofia de cerebelo, acúmulos mitocondriales subsarcolemales observados en el examen untraestructural del músculo vasto externo y deficiencia parcial del complejo I de la cadena respiratoria mitocondrial; en el aspecto genético molecular se excluyeron en linfocitos las mutaciones más frecuentes del gen de la ATPasa 6, y en el músculo se excluyeron deleciones del ADNmt y mutaciones en los genes ARNtLys y ARNtLeu(UUR). Conclusiones. A pesar de que la LSM es una entidad propia de la edad adulta, se debe tener presente en la edad pediátrica como una posibilidad diagnóstica; probablemente, el presente caso constituya la segunda observación de LSM asociada a citopatía mitocondrial en este margen de edad (AU)

[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation]. / Distrofia muscular por déficit de gamma-sarcoglicano. Aportación de tres pacientes con la mutación Delta-521T.

INTRODUCTION: gamma-sarcoglicanopathies, also classified as limb girdle muscular dystrophy type 2C (LGMD2C) are a group of autosomal recessive muscular dystrophies due to mutations in 13q12 and subsequent g sarcoglican deficiency. The protein is one of the components of the dystrophin associated glycoprotein complex and is thought to impart structural integrity to the myofibre. The clinical course of the disease may be heterogeneous, ranging from severe forms with onset in the first decade and rapid progression resembling Progressive Duchenne muscular dystrophy (DMD) to milder forms with later onset and slower course. Cases hitherto reported in Spain corresponds to gypsie patients, homozygous for C283Y missense mutation. CASE REPORTS: Here, we report three new galician (Northwest Spain) patients (one male and one female sibling cases) with a severe DMD like muscular dystrophy homozygous for D 521T. In the first male familial case, initial diagnosis of DMD was made. On reevaluation fourteen years later, inmunohistochemical and molecular studies allowed for a definitive g sarcoglicanopathy diagnosis. CONCLUSIONS: Patients with a primary sarcoglycanopathy may be clinically indistinguishable from those with the primary dystrophinopathies. Probably, the diagnosis of LGMD are underestimated and a number of male patients diagnosed as DMD really corresponds to a recessive form o muscular dystrophy. Consequently, a definitive diagnosis rests on appropriate inmunohistochemical and molecular analysis, specially in those patients showing a normal pattern of dystrophin and/or suggestive for an autosomal recessive mode of inheritance.

Dolor torácico y marcada elevación enzimática. Forma de presentación de la enfermedad de Mc Ardle / Elevated serum enzymatic and pain chest. Form of presentation of Mc Ardle's disease

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Distrofia muscular por déficit de -sarcoglicano. Aportación de tres pacientes con la mutación Delta-521T / Muscular dystrophy due to a deficit of g-sarcoglycan. A report of three patients with the Delta-521t mutation

Introducción. Las Gamma-sarcoglicanopatías o distrofias de cinturas tipo 2C (LGMD2C) constituyen un grupo de distrofias musculares progresivas de herencia autosómica recesiva debidas a mutaciones en 13q12 y al déficit subsiguiente de Gamma-sarcoglicano, uno de los constituyentes del complejo de proteínas asociado a la distrofina (DAP) que contribuye de forma primordial a la integridad de la membrana muscular. Desde el punto de vista clínico, su curso es en general similar al de la distrofia muscular progresiva tipo Duchenne, si bien algunas mutaciones determinadas se han asociado a un fenotipo menos grave. Los casos descritos en España corresponden en su mayoría a la mutación C283Y, exclusiva de la raza gitana. Casos clínicos. Describimos tres nuevos casos de pacientes gallegos (dos hermanos, varón y mujer) afectos de g-sarcoglicanopatía con fenotipo DMD, homocigotos para la mutación Delta-521T. En el primero de los casos familiares (varón) se efectuó el diagnóstico inicial de DMD, que permitió una reevaluación 14 años más tarde del establecimiento del diagnóstico definitivo en base a los hallazgos inmunohistoquímicos y moleculares. Conclusiones. El patrón clínico e histopatológico de las sarcoglicanopatías primarias puede ser indistinguible del de la DMD, hecho que sugiere que un número no determinado de casos de DMD en varones corresponde en realidad a formas autosómico recesivas de distrofias de cinturas (LGMD). El diagnóstico definitivo, en todo caso, de distrofia muscular debe establecerse sobre bases inmunohistoquímicas y moleculares apropiadas, y este hecho es de especial relevancia en los casos de varones con fenotipo DMD y patrón normal de distrofina, y en los casos sugerentes de un patrón de herencia autosómico recesivo (AU)

[Cemento-ossifying fibroma of the skull]. / Fibroma cemento osificante del cráneo.

Cemento-ossifying fibroma (cementoma) is benign fibro-osseous lesion of bone that generally is first seen during childhood or young adulthood as asymptomatic or painful intraosseous mass that commonly involved the maxilla. This paper describes the case of a young boy with a cemento-ossifying fibroma of the skull.

Fibroma cemento osificante del cráneo / Cemento-Ossifying fibroma of the skull

El fibroma cemento osificante (cementoma) es una lesión fibrosa del hueso de carácter benigno que se presenta en la infancia y adolescencia; se manifiesta con dolor y se localiza habitualmente en los maxilares. Presentamos el caso de un varón joven que presentó un fibroma cemento osificante del cráneo (AU)

Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction.

We report the case of a fetus aborted at gestation week 20 because of hydranencephalic-hydrocephalic syndrome. The fetus was the third pregnancy of a nonconsanguineous couple whose first child exhibited congenital hydranencephalic-hydrocephalic syndrome associated with muscle histology findings consistent with mitochondrial cytopathy and deficiency of complexes III and IV of the respiratory chain and whose second pregnancy had terminated in an elective abortion on detection of progressive hydrocephalus at gestation week 19. The third pregnancy had a normal course according to obstetric and ultrasonography examinations performed at gestation weeks 5, 10, and 15, and negative results were obtained in standard serologic and polymerase chain reaction (PCR) tests for prenatal infections of the mother. However, the ultrasonography examination at gestation week 18 revealed hydrocephalus, in response to which the parents requested an abortion, which was performed at gestation week 20; the fetus was male and with no evident external malformations. Histopathologic studies of the brain and medulla oblongata revealed proliferative vasculopathy (glomeruloid vessels, intracytoplasmic inclusions, and microcalcifications) and intracytoplasmic inclusions in the voluntary muscle. Microbiologic and PCR tests of hepatic and spleen tissue were negative for prenatal infections. In view of the precedent of a sister with mitochondrial dysfunction, these findings raise the pos sibility that at least some cases of familial syndrome of congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy can be attributed to alterations in the mitochondrial respiratory chain.

[Epidermoid cyst: a rare cause of cystic liver disease]. / Quiste epidermoide: una causa infrecuente de patología quística hepática.

We present the case of a 42-year-old male patient with a large hepatic cyst, simulating a hydatid cyst. Subtotal cystectomy was performed. Thirteen months after this procedure the patient relapsed and a second laparotomy and total cystectomy were performed. A histopathological diagnosis of epidermoid cyst of the liver was made. The differential diagnosis of epidermoid cysts of the liver is broad and definitive diagnosis is usually only obtained after pathological examination of the surgical specimen. For this reason, and because of the potential for neoplasia, complete resection of the hepatic lesion should be attempted.