Idiopathic intracranial hypertension presenting as iron deficiency anemia: a case report.

BACKGROUND: The presentation of idiopathic intracranial hypertension (IIH) in association with iron deficiency anemia (IDA) is rare. CASE PRESENTATION: This case report depicts the unusual case of a 31-year-old woman of mixed Jamaican and English heritage with IIH who presented initially as IDA in the context of menorrhagia. Subsequent ophthalmic review, lumbar puncture, cerebrospinal fluid analysis and neuroimaging studies revealed severe bilateral optic disc swelling and raised intracranial pressure in keeping with IIH. Prompt treatment of IDA with blood transfusion and orally administered iron supplements, in addition to medical treatment for IIH, contributed to significant improvement of symptoms and prevented long-term visual deficits. CONCLUSION: The possibility of IDA, albeit rare, should always be considered and investigated appropriately in all patients with IIH, as the treatment of the anemia alone may be sight-saving.

Hipertensión endocraneana idiopática: respuesta al tratamiento Topiramato vs Acetazolamida / Endocranial idiopathic hypertension: response to treatment Topiramate vs. Acetazolamide

INTRODUCCIÓN: El término pseudotumorcerebri se reserva para denominar aquellas hipertensiones endocraneanas (HE) que clínicamente asemejan la existencia de un tumor cerebral, debido a la alteración de la circulación del líquido cefalorraquídeo (LCR). Para su diagnóstico se describen los criterios de Dandy-Smith. OBJETIVOS: Objetivo Primario: Determinar el beneficio del uso de Azetazolamida (ACZ) o Topiramato (TPM) en el tratamiento de la hipertensión endocraneana idiopática. Objetivos Secundarios: Uso de Presión de apertura como parámetro indicador para uso de ACZ o TPM. MATERIALES Y MÉTODOS: Tipo de estudio: Descriptivo Retrospectivo Observacional. RESULTADOS: La media de seguimiento fue de 11 meses, con un rango entre 6-12 meses Se estudiaron 5 pacientes con diagnóstico de Hipertensión Endocraneana Idiopática. Del total de los pacientes 5 (100%) tenían F.O patológico y como síntoma cardinal cefalea, 2 (40%) además vómitos. 3 (60%) fue tratado con Topiramato (TPM) mientras que 2 (40%) recibió acetazolamida (ACZ), ambos sin complicaciones (p= 0,07) Del total de los pacientes 3(60%) presento presión de apertura menor de 40 mmHg mientras que en los restantes 2 (40%) fue mayor a 40 mmHg. De estos últimos el 1 paciente recibió TPM y 1 paciente ACZ. Dos pacientes (40%) presentaron en el seguimiento una recaída sintomática, al intentar descender la medicación. No se pudo definir como parámetro de decisión la presión de apertura en del uso de uno u otro medicamento ya que al evaluar el uso de TPM y ACZ en pacientes con presión de apertura mayor a 41 mmHg solo se detallaron 2 pacientes cada uno tratado con un medicamento de los anteriormente descriptos. (Chi cuadrado p= 0.44). Ninguno de los pacientes tratados requirió otro tratamiento complementario como PL seriadas o válvula de derivación ventrículo peritoneal. CONCLUSION: No se logró determinar beneficio en el uso de un medicamento sobre otro en el tratamiento de la hipertensión endocraneana idiopática (p=0,07), pese al tamaño muestral, el cual podría ser un limitante. Coincidentemente con la literatura sigue sin haber evidencia suficiente. No existe un algoritmo de consenso en cuanto al correcto manejo terapéutico y farmacológico de esta entidad. El uso de TPM o ACZ no condiciona la posterior aparición de complicaciones (p= 0.45) El estudio oftalmológico es esencial para diagnóstico y seguimiento. No se pudo establecer correlación entre el valor obtenido en la medición de la presión de apertura y el tratamiento instaurado. (AU)

INTRODUCTION: The term Pseudotumor cerebri is reserved for those endocranial hypertensio (EH) that resemble clinically the existence of a brain tumor, due to alteration of the circulation of the cerebrospinal fluid (CSF). Classically, the Dandy-Smith criteria for diagnosis are described. TYPE OF STUDY: Descriptive observational. OBJECTIVE: Primary Objective: To determine the benefit of the use of Azetazolamide (ACZ) or Topiramate (TPM) in the treatment of idiopathic endocranial hypertension Secondary Objectives: Use of Opening Pressure as indicator parameter for use of ACZ or TPM. MATERIALS AND METHODS: Observed patients(N:5) per clinic with diagnosis of EIH by criteria of Dandy-Smith in the period 2013-2017. I was performed in all patients: RMNC s/contrast Fundus oculi Lumbar puncture + opening pressure. RESULTS: Of the total of patients (5) 100% had F.O pathological and as cardinal symptom headache, and 40% also vomiting. The mean follow-up was 11 months 60% of the patients was treated with topiramate (TPM) while 40% received acetazolamide (ACZ), both without complications. Of the total of patients 60% presented less than 40 opening pressure mmHg, while that in the remaining 40% was greater than 40 mmHg, of which 50% received TPM and 50% ACZ. 40% presented in tracking a symptomatic relapse, trying to get off the medication. None of the treated patients required other adjunctive therapy such as serial PL or ventricleperitoneal shunt. CONCLUSIONS: It was not possible to determine benefit in the use of one drug over another in the treatment of idiopathic intracranial hypertension (p = 0.07), despite the sample size, which could be a limitation. Coincidentally with the literature there is still not enough evidence. There is no consensus algorithm regarding the correct therapeutic and pharmacological management of this entity. The use of TPM or ACZ does not condition the subsequent appearance of complications (p = 0.45) The ophthalmological study is essential for diagnosis and follow-up. No correlation could be established between the value obtained in the measurement of the opening ression and the treatment established. (AU)

Pediatric lumbar puncture and cerebrospinal fluid analysis.

BACKGROUND: Lumbar puncture (LP) is a commonly performed procedure in pediatrics. Accurate analysis of cerebrospinal fluid (CSF) profile is essential in diagnosing and managing a variety of infectious and inflammatory conditions involving the brain, meninges, and spinal cord. It can also provide useful diagnostic information in the evaluation of possible subarachnoid hemorrhage and demyelinating syndromes, and aid in the diagnosis and management of pseudotumor cerebri. OBJECTIVES: To review anatomic, physiologic, and pathologic aspects of performing pediatric lumbar puncture and CSF analysis. DISCUSSION: Although still a commonly performed procedure in the outpatient setting, effective vaccines to prevent invasive infection due to Streptococcus pneumoniae and Haemophilus influenzae type b have greatly reduced pediatric bacterial meningitis rates due to these pathogens, resulting in decreased opportunity for physician-trainees to perfect this important skill (among nonneonates) during the 3 years of supervised residency training. Success in performing pediatric LP is augmented by a thorough understanding of medical aspects related to this procedure. This article discusses technical aspects involved in successfully performing a lumbar puncture to obtain CSF, and interpreting a CSF profile in children. CONCLUSION: A thorough understanding of anatomic, physiologic, and pathologic considerations regarding performing lumbar puncture and CSF analysis can augment success in diagnosing a variety of potentially serious pediatric conditions.

A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.

We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri). The patient, her twin sister, and her mother also presented with cerebral cavernous malformations. Based on the early onset and normocalciuria, Bartter syndrome was diagnosed first. However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS. These mutations were not detected in 200 normal chromosomes and cosegregated within the family. Analysis of complementary DNA showed that the heterozygous nucleotide change c.2633+1G>C caused the appearance of 2 RNA molecules, 1 normal transcript and 1 skipping the entire exon 22 (r.2521_2634del). Supplementation with potassium and magnesium improved clinical symptoms and resulted in catch-up growth, but vision remained impaired. Three similar associations of Bartter syndrome/GS with pseudotumor cerebri were found in the literature, suggesting that electrolyte abnormalities and secondary aldosteronism may have a role in idiopathic intracranial hypertension. This study provides further evidence for the phenotypical heterogeneity of GS and its association with severe manifestations in children. It also shows the independent segregation of familial cavernomatosis and GS.

Pseudotumor cerebral maligno en niños por intoxicación plumbica / Lead poisoning presenting as malignant pseudotumor cerebri in children

Introducción: El pseudotumor cerebral (PTC), o hipertensión endocraneana benigna, se caracteriza por sintomatología compatible con aumento de la presión endocraneana en ausencia de lesión espacio-ocupante o dilatación ventricular por obstrucción en la circulación del LCR. Se presenta con cefalea, náuseas-vómitos, y variadas alteraciones visuales con edema de papila. Las causas subyacentes son múltiples: alteraciones endocrinas y metabólicas, obesidad, medicamentos, trombosis senos venosos, megadosis de vitamina A, sinusopatías, etc. como así también intoxicación plúmbica. Objetivo: Detectar etiología tóxica en pacientes con PTC en los cuales no se evidenció factor causal mediante interrogatorio dirigido a pesquisa de fuentes contaminantes de plomo. Material y Métodos: Análisis prospectivo de pacientes ambulatorios o internados con diagnóstico de PTC. Estudios de Rx de cráneo, oftalmológicos y neuroimágenes. Aplicación de protocolo de investigación de contacto con plomo. Determinaciones en sangre y orina del bioperfil plúmbico: ALA-D, ALA-U, plombemia, PPE, coproporfirinas III. Comparación con grupo control de los niños intoxicados. Aplicación del test de Fisher. Resultados: Fueron evaluados 66 niños entre 4 meses y 13 años, 49 varones. Las manifestaciones clínicas fueron: cefalea (85 por ciento), náuseas-vómitos (94 por ciento), alteraciones visuales: diplopia, disminución agudeza visual, estrabismo (91 por ciento), edema de papila (89 por ciento). Hipertensión radiológica (55 por ciento). Neuroimágenes: negativas para tumor (100 por ciento), compatible con edema cerebral (27 por ciento). Los factores etiológicos fueron identificados en 55 casos (83 por ciento) obesidad, endocrinopatía, corticoterapia, megadosis de vitamina A, sinusopatías, etc. En el 17 por ciento restante (11 casos) se sospechó etiología tóxica, comprobándose intoxicación plúmbica en 8 niños (12 por ciento). Conclusiones: Sugerimos aplicar interrogatorio dirigido hacia pesquisa de fuentes contaminantes de plomo en casos de PTC sin causa establecida, y confirmación con análisis de nivel de plomo en sangre y bioperfil plúmbico. El diagnóstico y tratamiento oportunos evitarán el pronóstico desfavorable de la afección, por eso consideramos como "maligno" a este tipo de pseudotumor. (AU)

Familial hypomagnesemia--hypercalciuria and pseudotumor cerebri.

Approximately 30 patients with familial hypomagnesemia-hypercalciuria have been reported. We describe an 8-year-old girl with cardinal findings of familial hypomagnesemia-hypercalciuria (hypomagnesemia, hypermagnesiuria, hypercalciuria, renal insufficiency, hyperuricemia, elevated serum parathormone, hyposthenuria and nephrocalcinosis), who received combination therapy consisting of magnesium salts, thiazide diuretic and potassium supplementation. At the 4-year follow-up investigation under this treatment, the patient was found to have cerebral pseudotumor (increased intracranial pressure with normal or small ventricles on neuroimaging, no evidence of an intracranial mass and normal cerebrospinal fluid composition) with papilledema and visual field defects. Thiazide therapy was terminated and the cerebral pseudotumor disappeared. The authors hypothesize that cerebral pseudotumor in this patient was related to severe hypocalcemia, as a consequence of profound hypomagnesemia induced by protracted thiazide treatment. To our knowledge, this is the first report of a child with familial hypomagnesemia-hypercalciuria who developed pseudotumor cerebri after thiazide therapy.

Bulging fontanelle after supplementation with 25,000 IU of vitamin A in infancy using immunization contacts.

To evaluate the safety of vitamin A supplementation in early infancy using DPT/OPV immunization contracts, a double-blind, randomized, placebo-controlled trial was conducted in Bangladesh. One hundred and sixty-seven infants received three doses of either 25,000 IU of vitamin A or a placebo at about 6.5, 11.8 and 17.0 weeks of age. Trained physicians examined each of the infants on days 1, 2, 3 and 8 after supplementation. Nine infants (10.5%) supplemented with vitamin A had episodes of bulging of the fontanelle compared with two infants (2.5%) in the placebo group (p < 0.05). Twelve of the 14 episodes occurred in infants supplemented with vitamin A. Of these 12 episodes, none occurred with the first dose, 3 occurred with the second and 9 with the third dose. The higher incidence of bulging of the fontanelle in the vitamin A group relative to the placebo group and its temporal association with the vitamin A doses are suggestive of a causal association. The finding that increased numbers of vitamin A doses were associated with a higher probability of bulging of the fontanelle suggests a cumulative effect.

Intracranial hypertension in a dieting patient.

We report a case of encephalopathy with paranoid psychosis in association with intracranial hypertension. This occurred in a patient whose diet consisted almost solely of walnuts, ginseng tea, and vitamin A supplements. The patient was found to be severely iron- and vitamin B12-deficient. She was vitamin A toxic. Venous sinus thrombosis was also present. Symptoms remitted with serial lumbar punctures, normalization of diet, and repletion of vitamin B12 and iron stores. Physicians should be alerted to the possibility of a potentially confusing clinical presentation with coexistent and seemingly mutually exclusive neurologic conditions in patients with extremely restricted or fad diets.

[A case of benign intracranial hypertension with bilateral reversible thalamic lesions on magnetic resonance imaging].

A 10-year-old girl had complained of headache, vomiting and blurred vision for one month before admission to our hospital. Her neurological findings were normal, except that the examination of the fundi revealed papilledema. The cerebrospinal fluid pressure was elevated to 220 mmH2O. The brain MRI showed bilateral and approximately symmetrical hyperintense areas located in the thalamus. These disappeared on the repeated MRI, and her symptoms regressed spontaneously within a month. Her illness was diagnosed as benign intracranial hypertension because of the favorable clinical course. These reversible thalamic lesions might be due to circulatory insufficiency associated with intracranial hypertension.

Quistes intracraneanos no parasitarios / Intracraneal cyst no parasityc

Se presentan 31 casos de quistes intracraneanos no parasitarios discriminados asi: quistes porencefálicos congénitos: 8 casos; quistes porencefálicos adquiridos (post-traumáticos, post-infeccioso, post-quirúrgico, post-accidente cerebrovascular): 6 casos; quistes aracnoideos de la fosa posterior; 3 casos; quistes aracnoideos supratentoriales; 1 caso; quistes tumorales de la fosa posterior: 3 casos; quistes tumorales supratentoriales: 3 casos; tubicamientos ventriculares: 6 casos; suprasellar: 1 caso. Se describen las diferentes técnicas utilizadas en el tratamiento de los mismos según la etiología

[A case of pseudotumor cerebri associated with colon cancer].

A case of pseudotumor cerebri associated with iron deficiency anemia due to colon cancer is reported in a 37-year-old woman. Her initial symptoms were vomiting and severe headache. On physical examination, no lymph nodes and abdominal mass were palpable but marked anemia was noted in her skin and conjunctiva . Neurological examination revealed papilledema in her both eyes and stiff neck. There was no abnormal findings on CT scan on admission. Spinal puncture revealed CSF pressure as high as 620 mmH2O with normal cells, protein, sugar and chloride levels. Hematological examination revealed iron deficiency anemia and thrombocytosis. Angiography at third day revealed no sinus occlusion, but retention of contrast media was seen on the cortical vein of parietal lobe and right transverse sinus. Brain scintigram at sixth day revealed mild accumulation in left parietal lobe, so small venous infarction was suggested. There were two circumscribed stenotic lesions of right ascending colon in the barium enema, and right hemicolectomy was achieved. The pathological diagnosis was adenocarcinoma. The symptoms of pseudotumor cerebri was completely disappeared soon after the surgery together with resolution of anemia. She lives with no deficits now 1 year 3 months after surgery. In conclusion much attention is necessary to a patient of pseudotumor cerebri with iron deficiency anemia for the presence of cancer, because not only this central nervous system lesion is reversible and curable but also the cancer itself may be curable by surgery.

Imaging of the optic nerve with standardised echography.

Standardised echography is a unique method of ophthalmic ultrasound that requires special instrumentation, well prescribed methods of examination and a high level of operator skill. Because of its anatomical features and position in the orbit, the optic nerve is well suited for imaging by this technique, particularly for the detection of subtle lesions in its anterior portion and nerve head. Standardised A-scan can measure precisely the width of the nerve, differentiate between fluid and solid lesions as a cause of nerve swelling (the 30 degree test) and, by examining reflectively and internal structure, provide "ecographic tissue diagnosis" in a high proportion of cases. Contact B-scan is suitable for detecting lesions of the optic disc (drüsen, swelling and large cupping), calcification in the nerve (meningioma, deep drüsen), and for the topographic display of lesions. CT-scan is superior in displaying the apical and intra-cranial portion of the nerve, and the simultaneous presentation of both orbits, peri-orbital structures and bony walls.

Benign intracranial hypertension: diagnosis and conservative management.

The clinical features of benign intracranial hypertension are described. Pathological components are discussed and are contrasted against the current theoretical model of pain production in benign intracranial hypertension. Diagnosis and associated conditions are discussed from a review of the literature, and conservative management is outlined.