COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage.

The COL4A1 mutation is a very rare monogenic cause of small vessel disease related to recurrent intracerebral hemorrhage. We report a family in which the index case presented with two intracerebral hemorrhages in the basal ganglia with severe periventricular leukoaraiosis and a cataract and vascular tortuosity in the ophthalmological study. His twin brother also had severe leukoaraiosis and multiple subcortical microhemorrhages as well as a congenital cataract and vascular tortuosity in the retina. The older sister had a porencephalic cyst and involvement of the periventricular white matter and intracerebral hemorrhage. In single-gene testing, all three were found to have the same COL4A1 mutation. Intracerebral subcortical hemorrhages or microhemorrhages and severe subcortical leukoaraiosis in familial cases may be related to COL4 mutations.

Internal Carotid Artery Web as the Cause of Recurrent Cryptogenic Ischemic Stroke.

Carotid artery web is considered an exceptional cause of recurrent ischemic strokes in the affected arterial territory. The underlying pathology proposed for this entity is an atypical fibromuscular dysplasia. We present the case of a 43-year-old woman with no cardiovascular risk factors who had experienced 2 cryptogenic ischemic strokes in the same arterial territory within an 11-month period. Although all diagnostic tests initially yielded normal results, detailed analysis of the computed tomography angiography images revealed a carotid web; catheter angiography subsequently confirmed the diagnosis. Carotid surgery was performed, since which time the patient has remained completely asymptomatic. The histological finding of intimal hyperplasia is consistent with previously reported cases of carotid artery web. Carotid artery web is an infrequent cause of stroke, and this diagnosis requires a high level of suspicion plus a detailed analysis of vascular imaging studies.

Bilateral Retrobulbar Optic Neuropathy Associated With Golimumab.

We report the first documented case of retrobulbar optic neuropathy associated with golimumab. A 48-year-old man was admitted with a 3-week history of progressive visual loss of his left eye. He had received a second infusion of golimumab for ankylosing spondylitis 10 days before admission. A magnetic resonance imaging scan showed enhancement of both optic nerves and visual evoked potentials were consistent with demyelinating bilateral optic neuropathy, although visual acuity drop in the right eye could not be determined because of deep amblyopia. No improvement was observed after golimumab dechallenge or corticosteroid treatment. Demyelinating complications related to treatment with tumor necrosis factor alpha inhibitors (TNFAI) have been previously described. Golimumab, a fully human monoclonal antibody, is the most recently developed TNFAI and thus, fewer adverse effects have been reported. Further studies should be developed to elucidate if variability in golimumab's pharmacokinetics or TNF receptor binding affinity could explain different safety profiles compared with other TNFAI.

Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene.

Polymerase γ (POLG) is the enzyme responsible for the replication and maintenance of mitochondrial DNA (mtDNA). Mutations in the POLG1 gene can lead to mitochondrial dysfunction, producing a wide range of neurological and non-neurological phenotypes. Neurological manifestations include ataxia, muscular weakness, epilepsy, progressive external ophthalmoplegia (PEO), ptosis, neuropathy, psychiatric disorders and, more rarely, parkinsonism. We present the case of an 80-year old female patient with a history of PEO, ptosis, childish behaviour, obsessive disorder, cognitive decline, and parkinsonism. A comprehensive study showed striatal dopamine deficiency on DaT Scan and ragged red fibres as evidenced by Gomori staining in a biopsy of the biceps brachii. Multiple deletions of mtDNA were detected, and sequencing of the POLG1 gene identified a novel substitution, 2834A>T, in exon 18, changing the p.His945Leu amino acid. In silico analysis using PolyPhen-2 (http://genetics.bwh.hardvard.edu/pph2/) predicted that this change is probably damaging, with a score of 1.0 (0-1).

Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2.

An inverse relationship between Parkinson's disease (PD) and cancer has been described. However, the association between cancers and genetic forms of PD, in particular the R1441G mutation in the LRRK2 gene, is not well known. The objective of this work was to analyze cancer prevalence in PD patients with R1441G or G2019S mutations in LRRK2, and in idiopathic PD (iPD). A total of 732 patients with PD (70 and 25 carriers of R1441G or G2019S mutations, respectively), and 177 controls, were linked using a population-based cancer registry of the Spanish province of Gipuzkoa. Cancer prevalence was not significantly higher in PD-G2019S carriers (20%) than in PD-R1441G carriers (14.3%), iPD (13.8%), or controls (12.5%). With the exception of a high prevalence of hematological cancers (crude odds ratio of 7.1) in the R1441G group, specific cancer types were not increased in PD mutation carriers. In both the carrier and iPD groups, cancers were diagnosed after the onset of PD. PD patients had a similar prevalence of cancer to control subjects. There was no increased association between G2019S or R1441G mutations and any type of cancer. Although there was a higher prevalence of hematological cancers in the R1441G group, the low number of such cancers overall makes this finding of uncertain significance. There was a slightly higher but not statistically significant prevalence of non-skin cancers in the G2019S group, suggesting that further study to evaluate the association should be undertaken prior to ascribing an increased cancer risk to this population.

[Response to treatment with corticoids in a case of inflammatory amyloid angiopathy without performing a biopsy]. / Respuesta al tratamiento con corticoides en un caso de angiopatía amiloide inflamatoria sin realización de biopsia.

INTRODUCTION: Inflammatory amyloid angiopathy (IAA) is an infrequent presenting symptom of the recently recognised cerebral amyloid angiopathy and its definitive diagnosis is reached by means of pathological analyses. AIM: We report the case of a male patient with IAA and good clinical, neuropsychological and neuroimaging response to treatment with corticoids; a biopsy of brain tissue was not considered necessary. CASE REPORT: The patient, 68 years old and diagnosed with Alzheimer's disease, suffered from generalised seizures followed by a language disorder and hemiparesis of the right-hand side. A magnetic resonance imaging scan showed a lesion displaying infiltrating behaviour in the left hemisphere and multiple instances of microbleeding. Clinical and radiological features suggested IAA and treatment was established with corticoids. Neuroimaging and neuropsychological tests revealed a notable improvement at 30 days after beginning treatment with immunosuppressants. The genotype was ApoE e4/e4. The need to perform a biopsy of brain tissue was ruled out. CONCLUSIONS: The case described here suggests that, in individualised cases with clinical and radiological features that are characteristic of IAA, it may be possible to establish an empirical treatment with corticoids with a probability diagnosis and perform a biopsy of brain tissue in the event of a lack of response to treatment.

La enfermedad inflamatoria pélvica y su indicación quirúrgica / Pelvic inflammatory disease and surgical indication

Se analizan 87 pacientes con EIP aguda tratadas en la Maternidad, Santa Ana, del I.V.S.S. durante el lapso de 5 años, comprendido del año 1963 al 1987. La mayoría de los pacientes mejoraron con el tratamiento médico a base de antibióticos por vía parenteral, siendo los más usados ampicilina, penicilina y gentamicina. Sólo dos pacientes fueron tratadas quirúrgicamente, practicándose en un caso una laparatomía exploradora y en el otro caso un drenaje de absceso del Douglas por colpotomía posterior. La morbilidad fue baja y no hubo casos de mortalidad en esta serie

Efecto antihelmíntico de pamoato de oxantel/pirantel y mebendazol en parasitosis intestinales: estudio comparativo en un medio rural / Antihelmintic effect of oxantel/pirantel pamoato and mebendazole in intestinal parasitosis: comparative study in a rural community

90 pacientes de las comunidades rurales de Charallave y Caucagüita, Estado Miranda, Venezuela, comprendidos entre los 2 y 15 años de edad y a los que se les diagnosticó infectación parasitaria por Ascaris, Tricurias, Necator, o mixta por Ascaris-Trichuria, mediante examen de heces directo y fueron divididos en dos grupos de 45 pacientes cada uno, administrándose a uno Pamoato de Oxantel/Pirantel y a otro Mebendazol. Se evaluó la eficacia del tratamiento con Oxantel/Pirantel frente al Mebendazol realizando exámenes de heces control a los 7 y 21 días de concluidos los tratamientos y se encontró que de los 45 pacientes tratados con Oxantel/Pirantel, 43 (95,55%) presentaron curación a los 7 días y todos (100%) a los 21 días, mientras que en el segundo grupo, tratados con Mebendazol, a los 7 días 30 pacientes (66,66%) estaban curados, persistiendo a los 21 días 10 pacientes (22,22%) no curados. El Pamoato de Oxantel/Pirantel aparece como altamente eficaz en el tratamiento individual y masivo de las parasitosis intestinales más frecuentes en el medio rural venezolano