Dos hermanas con distrofia macular causada por la mutación 3243A>G del ADN mitocondrial / Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation

CASO CLÍNICO: Dos hermanas de 54 y 60 años, con antecedentes de diabetes y sordera, consultaron por disminución de la agudeza visual (AV). En la funduscopia se observaban áreas parcheadas de atrofia coriorretiniana con disposición anular alrededor de la fóvea. El estudio genético identificó la mutación heteroplásmica 3243A>G en el ADN mitocondrial, compatible con el síndrome Maternally Inherited Diabetes and Deafness (MIDD) o enfermedad de Ballinger-Wallace. Discusión: El hallazgo de tales alteraciones maculares características, especialmente si se acompaña de diabetes mellitus y sordera, nos debe indicar la realización de un cribado del genoma mitocondrial para identificar este inusual síndrome

CASE REPORT: Two sisters of 54 and 60 years old, with a history of diabetes and deafness, consulted for decreased visual acuity (VA). Funduscopic examination revealed patchy areas of chorioretinal atrophy with annular arrangement around the fovea. Genetic study identified the heteroplasmic mutation 3243A>G in mitochondrial DNA, which supports syndrome maternally inherited diabetes and deafness (MIDD) or Ballinger-Wallace disease. DISCUSSION: The finding of such macular disorders, especially in the presence of diabetes mellitus and deafness, should suggest the performing of a mitochondrial genome screening to identify this unusual syndrome

Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation. / Dos hermanas con distrofia macular causada por la mutación 3243A>G del ADN mitocondrial.

CASE REPORT: Two sisters of 54 and 60years old, with a history of diabetes and deafness, consulted for decreased visual acuity (VA). Funduscopic examination revealed patchy areas of chorioretinal atrophy with annular arrangement around the fovea. Genetic study identified the heteroplasmic mutation 3243A>G in mitochondrial DNA, which supports syndrome maternally inherited diabetes and deafness (MIDD) or Ballinger-Wallace disease. DISCUSSION: The finding of such macular disorders, especially in the presence of diabetes mellitus and deafness, should suggest the performing of a mitochondrial genome screening to identify this unusual syndrome.

Presentación atípica de un adenoma pleomorfo de la glándula lagrimal con focos de necrosis / Atypical presentation of lacrimal gland pleomorphic adenoma with necrotic foci

CASO CLÍNICO: Varón de 48 años que acude por dolor en región periorbitaria superior izquierda, con sospecha de dacrioadenitis. Tras mejoría clínica y sospecha de dacriops se decide extirpar dicha lesión. La anatomía patológica diagnostica un adenoma pleomorfo de la glándula lagrimal con áreas de necrosis. DISCUSIÓN: La forma de presentación de un adenoma pleomorfo suele ser asintomática. Sin embargo, la presencia de dolor en este caso puede estar relacionada con la necrosis observada en el estudio histológico. Aunque no está descrito en glándulas lagrimales, sí que existen referencias de necrosis de adenomas pleomorfos de glándulas salivares con dolor en la presentación

CLINICAL CASE: The case is presented of 48 year-old male complaining of a painful left upper eyelid and swelling of the lacrimal gland, with a suspicion of dacryoadenitis. Removal was decided after dacriops suspicion. Histopathology diagnosed a pleomorphic adenoma of the lacrimal gland, with areas of necrosis. DISCUSSION: Lacrimal gland pleomorphic adenoma usually presents as a slowly progressive painless mass. However, painful presentation in this case might be related with necrotic foci found in the histopathological examination. Although not described in lacrimal glands, pleomorphic adenomas have already been reported in the major and minor salivary glands, and these patients also presented with a painful mass

Desprendimiento neurosensorial macular recurrente en fístula carótido-cavernosa / Recurrent neurosensory macular detachment in carotid-cavernous fistula

CASO CLÍNICO: Varón de 46 años, acudió a Urgencias por disminución de agudeza visual y exoftalmos en ojo derecho. Aquejaba cefalea, diplopía de 4 meses de evolución e historia de desprendimiento neurosensorial (DNS) resuelto espontáneamente un mes antes. Presentaba tortuosidad de vasos conjuntivales y epiesclerales y nuevo DNS macular derecho. La sospecha de fístula carótido-cavernosa quedó confirmada mediante angiotomografía computarizada (angio-TC). Durante su ingreso la fístula se cerró espontáneamente. Al mes, el DNS había desaparecido. DISCUSIÓN: La fístula carótido-cavernosa debe incluirse en el diagnóstico diferencial de los DNS maculares. El DNS puede desaparecer espontáneamente al cerrarse la fístula

CASE REPORT: A 46 year-old man was seen in the emergency department complaining of vision loss and exophthalmos in his right eye. He also complained of headache, diplopia of 4 months onset, and neurosensory detachment that resolved spontaneously the month before. The study revealed tortuous conjunctival and episcleral vessels and neurosensory macular detachment in his right eye. A carotid-cavernous fistula was confirmed by computed tomography angiography. The fistula closed spontaneously during the hospitalization. One month later, the neurosensory detachment disappeared again. DISCUSSION: Carotid-cavernous fistula should be included in the differential diagnosis of neurosensory macular detachments. These neurosensory detachments can resolve spontaneously 11 the fistula is closed

[Atypical presentation of lacrimal gland pleomorphic adenoma with necrotic foci]. / Presentación atípica de un adenoma pleomorfo de la glándula lagrimal con focos de necrosis.

CLINICAL CASE: The case is presented of 48 year-old male complaining of a painful left upper eyelid and swelling of the lacrimal gland, with a suspicion of dacryoadenitis. Removal was decided after dacriops suspicion. Histopathology diagnosed a pleomorphic adenoma of the lacrimal gland, with areas of necrosis. DISCUSSION: Lacrimal gland pleomorphic adenoma usually presents as a slowly progressive painless mass. However, painful presentation in this case might be related with necrotic foci found in the histopathological examination. Although not described in lacrimal glands, pleomorphic adenomas have already been reported in the major and minor salivary glands, and these patients also presented with a painful mass.

[Recurrent neurosensory macular detachment in carotid-cavernous fistula]. / Desprendimiento neurosensorial macular recurrente en fístula carótido-cavernosa.

CASE REPORT: A 46 year-old man was seen in the emergency department complaining of vision loss and exophthalmos in his right eye. He also complained of headache, diplopia of 4 months onset, and neurosensory detachment that resolved spontaneously the month before. The study revealed tortuous conjunctival and episcleral vessels and neurosensory macular detachment in his right eye. A carotid-cavernous fistula was confirmed by computed tomography angiography. The fistula closed spontaneously during the hospitalization. One month later, the neurosensory detachment disappeared again. DISCUSSION: Carotid-cavernous fistula should be included in the differential diagnosis of neurosensory macular detachments. These neurosensory detachments can resolve spontaneously 11 the fistula is closed.