Discinesia asociada a ADCY5 en la infancia: a propósito de una familia y revisión actualizada / ADCY5-associated dyskinesia in young children: a case report of a family and an updated review

INTRODUCCIÓN: La discinesia de la mutación ADCY5 es un raro trastorno del movimiento de inicio en la infancia. Se caracteriza por movimientos coreicos aislados o asociados a mioclonías y distonías que afectan a las extremidades, el cuello y la cara. El escaso número de pacientes y familias no permite aún una adecuada relación genotipo-fenotipo. OBJETIVOS: Presentar el caso de un niño con trastornos del movimiento de inicio precoz en el seno de una familia con tres generaciones de afectados, y realizar una revisión actualizada de la casuística y el tratamiento de esta rara enfermedad. CASO CLÍNICO: Varón de 6 años, remitido por retraso del lenguaje e hiperactividad. Tras seis meses de seguimiento, comenzó a presentar movimientos coreicos de predominio facial y de la raíz de los miembros, especialmente al despertar. Al año de seguimiento, se evidenció corea generalizado en reposo con afectación orofacial y torpeza en la marcha. Como antecedentes familiares destacaban su madre, abuelo, tío y prima maternos, que fueron diagnosticados de síndrome de Meige (distonía oromandibular y músculos periorbitarios) con trastornos del movimiento de tipo coreiforme sin filiar desde la infancia. El estudio cerebral por resonancia magnética no presentó alteraciones. Se realizó un exoma clínico dirigido a trastornos del movimiento que descubrió la mutación patógena en el gen ADCY5 causante de la discinesia familiar autosómica. CONCLUSIÓN: La mutación c.1126G > A p.A376T muestra una historia natural con un fenotipo clínico no progresivo en tres generaciones de afectados, con inicio en la infancia y respuesta al tratamiento con guanfacina

INTRODUCTION. Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families still does not allow an adequate genotype-phenotype relationship. AIMS. The case of a child with movement disorders of early onset is presented in a family with three generations of affected members. An updated review of the casuistry and management of this rare disease is made. CASE REPORT: A 6-year-old boy referred for language delay and hyperactivity. After six months of follow-up he begins to show chorea movements of predominantly facial and limb roots, especially when waking up. At one year of follow-up, generalized chorea at rest with orofacial involvement and awkward gait begins to show. His family history includes his mother, grandfather, maternal uncle and cousin, who were diagnosed with Meige's syndrome (oromandibular dystonia and periorbital muscles) with choreiform-like movement disorders without affiliation since childhood. The brain study by MRI showed no alterations. A clinical exome targeting movement disorders was performed that discovered the pathogenic mutation in the ADCY5 gene causing autosomal familial dyskinesia. CONCLUSION: The c.1126G>A p.A376T mutation shows a natural history with a non-progressive clinical phenotype in three generations of affected members, with childhood debut and response to guanfacine treatment

Pathology and radiology correlation of idiopathic interstitial pneumonias.

By nature, idiopathic interstitial pneumonias have been diagnosed in a multidisciplinary manner. As classifications have been subject to significant refinement over the last decade, the importance of correlating clinical, radiologic, and pathologic information to arrive at a diagnosis, which will predict prognosis in any given patient, has become increasingly recognized. In 2013, the American Thoracic Society and European Respiratory Society updated the idiopathic interstitial pneumonias classification scheme, addressing the most recent updates in the field. The purpose of this review is to highlight the correlations between radiologic and pathologic findings in idiopathic interstitial pneumonias while using updated classification schemes and naming conventions.

[Meige's syndrome or segmental craniocervical dystonia: terminology, history and contemporary view].

The term "Meige's syndrome" or "Breughel's syndrome" is used by specialists for the description of blepharospasm with the involuntary movements in the lower part of the face and/or masseter muscle. These eponyms "Meige's syndrome" and "Breughel's syndrome" make some mess in the terminology. The term "segmental craniocervical dystonia" joins different blepharospam-plus phenotypes and reflects contemporary perceptions about its genetic and pathophysiological community. Botulinotherapy is in fact the only way of symptomathic treatment of craniocervical dystonias.

Methylphenidate-induced acute orofacial and extremity dyskinesia.

Methylphenidate is a short-acting stimulant. In this article, the authors report a 7-year-old male patient who presented with orofacial and limb dyskinesia after his first dose of methylphenidate treatment for a diagnosis of attention-deficit/hyperactivity disorder; he was also receiving sodium valproate treatment for epilepsy. Orofacial dyskinesia appeared 5 hours after methylphenidate administration, persisted for 10 hours, and had completely resolved within 2 days. Although limb dyskinesia after methylphenidate is a commonly reported side effect, to the authors' knowledge this is only the second reported case to develop both orofacial and limb dyskinesia in the acute period after the first dose of methylphenidate. This case is reported to emphasize the potential side effects of methylphenidate, individual differences in drug sensitivities, and drug-receptor interactions via different mechanisms.

Sustained relief of dystonia following cessation of deep brain stimulation.

We describe the unusual clinical course of a patient with cranial dystonia (i.e., Meige syndrome) and additional upper limb involvement, who developed sustained relief of motor symptoms following cessation of a prolonged course of bilateral pallidal deep brain stimulation (DBS). Early response to therapy proved titratable and reversible; however, the patient gained independence from DBS in the fifth postoperative year and has since been more than a year without treatment or exacerbation of motor symptoms. Among the potential explanations for these neurological benefits lies the intriguing possibility that DBS therapy may have the capacity to induce plastic change that lessens or obviates the need for further treatment in susceptible patients.

Severe tongue protrusion dystonia: clinical syndromes and possible treatment.

We describe intermittent or sustained severe involuntary tongue protrusion in patients with a dystonic syndrome. Speech, swallowing, and breathing difficulties can be severe enough to be life threatening. Causes include neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, Lesch-Nyhan syndrome, and postanoxic and tardive dystonia. The pathophysiology of intermittent severe tongue protrusion remains unknown. Tongue protrusion dystonia is often unresponsive to oral drugs but may benefit from botulinum toxin injections into the genioglossus muscle. Bilateral deep brain pallidal stimulation was beneficial in two cases.

Levetiracetam in Meige's syndrome.

The spontaneous occurrence of blepharospasm and dystonic movements in face muscles, particularly those of the perioral and mandibular regions, has been named as Meige's disease which was first described by Henry Meige in 1910. We report the case of a woman with Meige's syndrome whose symptoms improved with the use of levetiracetam.

CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary vascular disease that usually begins with migraine, followed by repeated strokes and progressive dementia. We describe an unusual clinical presentation of this condition in members of a Chilean family with an established NOTCH3 mutation. We report early clinical, neuropsychological, transcranial ultrasound, magnetic resonance imaging (MRI), cerebral blood flow, and skin biopsy findings on these patients. Of the patients, 2 presented with facial dystonia, 1 of whom had abnormal single photon emission computed tomography and transcranial ultrasound studies after normal brain MRI scans. Our report emphasizes that CADASIL must be considered in the study of patients with secondary dystonia.

Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.

We report on a 38-year-old patient with rapid-onset dystonia-parkinsonism (RDP) with a missense mutation in the Na/K-ATPase alpha3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopa-unresponsive parkinsonism even if there is no family history and the classic presentation is lacking.

[Case of oromandibular dystonia presenting with severe impairment of mouth-opening, and a marked effect by administration of baclofen].

We report a 67-year-old woman with idiopathic oromandibular dystonia (OMD). She could neither open the mouth nor take meals due to involuntarily strong mouth-closing. The movement of face, pharynx and tongue were normal, and she could open the mouth slightly when jaw and cheek were touched (sensory trick). Chvostek sign and Trousseau sign were negative, and opisthotonus was not recognized. The laboratory data including calcium, phosphorous and cerebrospinal fluid were within normal limits, head and cervical MRI, temporomandibular joints-Xp and needle electromyography were normal. The surface electromyography revealed that masseter and chin muscles contracted synchronously. This result meant dystonia around the mouth. The clinical course and physical examination did not support the diagnosis of tetanus, tetany or bulldog response. She was diagnosed as OMD. She had peroral administration of baclofen, because this drug is a GABA-derivative and acts as a muscular relaxant. Her clinical symptoms and dystonic pattern on the surface electromyography improved markedly after the administration. Baclofen is an effective drug for treatment of oromandibular dystonia.

[Spasmodic dysphonia in course of Meige's syndrome--case report]. / Przypadek dysfonii spastycznej, wystepujacej w przebiegu zespolu Meige'a.

INTRODUCTION: The Meige's syndrom is characterized by the presence of bilateral, symmetrical, dystonic cramp of face muscles or muscles of middle line of body, the respiratory muscles and muscles of throat. The etiology of Meige's syndrome is uncertain. The disorders of basal ganglia function and neurotransmitters' imbalance (dopamine and acetylocholine) can be with reason of pronouncement of symptoms presumably. MATERIAL AND METHOD: Our aim was to introduce a case of 71 years old patient in whom we diagnosed spasmodic dysphonia in course of Meige's Syndrom. Patient has been treated by 3 years with Botulin toxin. The spasmodic Dysphonia occurred after over 2 years from appearing of first syndrom's symptoms. RESULTS: Sonorous voice during rehabilitation was got during expressing syllables and short bisyllabic words. Patient stays still under phoniatric care. CONCLUSIONS: Patients with spasmodic dysphonia ought to be examined by a interdisciplinary medical team.

Síndrome de Stewart-Treves / Stewat-Treves Syndrome

El linfangiosarcoma es un tumor vascular infrecuente que asienta habitualmente sobre linfedema de larga evolución. Hemos recogido los casos observados de linfangioma en un hospital intentando analizar sus características: la edad, el sexo, la ubicación, tratamiento y los datos de seguimiento. Hemos estudiado 5 casos: 3 casos de síndrome de Steward-Treves tras mastectomía y radioterapia, y 2 que asientan en pacientes afectados de linfedema congénito (forma tardía). Cuatro eran mujeres y 1 varón. Se realizó cirugía radical en 4 pacientes. Las técnicas empleadas fueron: amputación supragoneal: 1; desarticulación de cadera: 1; desarticulación escapulohumeral: 2, y 1 tratado con gemcitabina y radioterapia ante la existencia de enfermedad metastásica en el momento del diagnóstico. Dentro de los primeros 14 meses de seguimiento fallecieron 3 pacientes y 2 se encuentran libres de enfermedad pasados 46 y 86 meses, respectivamente. Este estudio confirma el mal pronóstico de estos pacientes (AU)

Lymphangiosarcoma is an uncommon vascular tumor that usually develops in longstanding lymphedema. We gathered the cases of lymphangioma observed in a hospital and attempted to analyze their characteristics: age, sex, localization, treatment and follow-up data. We studied five cases: three cases of Stewart-Treves syndrome after mastectomy and radiotherapy and two cases that developed in patients with late-onset congenital lymphedema. There were four women and one man. Radical surgery was performed in four patients. The techniques employed were: above-knee amputation (one patient), hip disarticulation (one patient), scapulo-humeral disarticulation (two patients) and gemcitabine and radiotherapy in one patient with metastatic disease at diagnosis. Three patients died in the first 14 months of follow-up, while two are disease free after 46 and 86 months respectively. This study confirms the poor prognosis of patients with Steward-Treves syndrome (AU)

Ovarian granulosa cell tumor presenting as Meigs' syndrome with elevated CA125.

Herein, a rare case of ovarian granulosa cell tumor, presenting as Meigs' syndrome, with elevated carbohydrate antigen 125 (CA125), is reported. A 69-year-old woman was admitted for the investigation of abdominal fullness and dyspnea. A preoperative examination revealed a huge pelvic tumor and an abdominopelvic magnetic resonance image (MRI) assumed ovarian cancer. A chest computed tomography (CT) scan revealed pleural effusion. A laparotomy confirmed the huge mass to be an ovarian tumor. A total abdominal hysterectomy (TAH), with a bilateral salpingo-oophorectomy (BSO) and partial omentectomy, was performed. Although short-term intrathoracic drainage was required, the hydrothorax and ascites rapidly resolved in the postoperative period.