- Prevalence of idiopathic intracranial hypertension and associated factors in obese children and adolescents. [JOURNAL ARTICLE]
- J Pediatr Endocrinol Metab 2016 Jul 27.
Idiopathic intracranial hypertension (IIH) is one of the most important and rare complications of obesity. Prevalence of IIH in childhood obesity is not known. The purpose of this study was to determine the prevalence of IIH in obese children and adolescents and to investigate the relevant factors.In this study, 1058 obese children and adolescents between 2 and 18 years of age were included. Funduscopic examination was conducted for all subjects. In cases with papilledema, increase in intracranial pressure was clarified by measuring CSF pressure with a lumbar puncture. Other causes of IIH were ruled out with clinical, laboratory tests and imaging techniques.Idiopathic intracranial hypertension was diagnosed in 14 subjects (1.32%). Rates of headache and systemic hypertension in subjects with IIH was determined to be 78.6% and 28.6%, respectively. Morning cortisol, fasting insulin and HOMA-IR values were found to be significantly higher in this cases (p<0.05).In childhood obesity, IIH should be kept in mind as a serious complication. Funduscopic examination is an easy method that suggests IIH. In particular, obese children with systemic hypertension and refractory headache should be considered for IIH.
- Ophthalmic Diseases in Patients With Obstructive Sleep Apnea. [Journal Article]
- J Am Osteopath Assoc 2016 Aug 1; 116(8):522-9.
Symptomatic obstructive sleep apnea (OSA) affects 2% of women and 4% of men, but the prevalence of asymptomatic OSA is significantly higher. Several ophthalmic conditions are associated with OSA, including floppy eyelid syndrome, glaucoma, nonarteritic anterior ischemic optic neuropathy, papilledema, keratoconus, and central serous chorioretinopathy. The purpose of this review is to provide primary care physicians with a general knowledge of the signs, symptoms, and management of the ophthalmic diseases associated with OSA.
- Disseminated tuberculosis with varied paradoxical reactions. [Journal Article]
- J Family Med Prim Care 2016 Jan-Mar; 5(1):170-1.
Paradoxical reactions are immune-mediated exacerbations of disease triggered by tuberculosis (TB) treatment. We describe a case of varied paradoxical reactions in a 9-year-old girl who was diagnosed with mediastinal TB and tuberculous ascites. The development of paradoxical reaction was gradual with pericardial effusion occurring first followed by pleural effusion and subsequently bilateral papilledema.
- Cryptococcal meningitis initially presenting with eye symptoms in an immunocompetent patient: A case report. [JOURNAL ARTICLE]
- Exp Ther Med 2016 Aug; 12(2):1119-1124.
Although cryptococcal meningitis (CM) typically occurs in immunocompromised hosts, immunocompetent humans are susceptible to CM. In humans with an intact immune system, CM presents with signs and symptoms typical of meningitis, including fever, headache and neck stiffness. The present study reported the case of a female immunocompetent patient who presented visual blurring in both eyes and bilateral papilledema for ~1 month. Following hospital admission, the patient was diagnosed with optic nerve inflammation and was treated with intravenous methylprednisolone and oral prednisone. However, the initial symptoms failed to improve and the patient developed a headache. The microscopic examination and India ink test performed using the cerebrospinal fluid of the patient showed the presence of Cryptococcus neoformans. Following combined treatment with amphotericin B and fluconazole, the patient made a full recovery with total resolution of the initial symptoms. This case demonstrates that CM in immunocompetent patients may initially include eye symptoms, which may result in a delayed diagnosis of CM.
- Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation. [CASE REPORTS]
- Pediatr Dermatol 2016 Jul 19.
Autoinflammatory syndromes are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticaria syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. MWS is characterized by a moderate phenotype with fever, rash, arthralgia, conjunctivitis, sensorineural deafness, and potentially life-threatening amyloidosis. We report a 5-year-old girl with MWS that manifested as a recurrent skin rash without fever episodes or intracranial hypertension with papilledema. Genetic analysis revealed a T348M mutation of the NLRPR 3 gene in the patient and her mother. She was successfully treated with the interleukin-1β antagonist receptor anakinra.
- Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome. [JOURNAL ARTICLE]
- Mol Med Rep 2016 Jul 11.
Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak‑like nose. The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. Two families underwent complete ophthalmic examination, and three patients in two families were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood samples, which were collected from the family members and 200 unrelated control subjects from the same population. Exons 8 and 10 of the FGFR 2 gene were amplified using polymerase chain reaction analysis and were directly sequenced. Ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus examination and Computerized Tomography scans, and physical examinations were performed to exclude systemic diseases. These patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, strabismus or papilloedema, with clinically normal hands and feet. A heterozygous FGFR 2 missense mutation, c.811‑812insGAG (p.273insGlu) in exon 8 was identified in the affected individual, but not in the unaffected family members or the normal control individuals in family 1. In family 2, another heterozygous FGFR 2 missense mutation, c.842A>G (P.Tyr281Cys or Y281C), in exon 8 was identified in the affected boy and his mother, but not in the unaffected family members or the normal control individuals. Although FGFR 2 gene mutations and polymorphisms have been reported in various ethnic groups, particularly in the area of osteology, the present study reported for the first time, to the best of our knowledge, the identification of two novel FGFR 2 gene mutations in Chinese patients with Crouzon syndrome.
- Visual impairment. [Journal Article]
- Handb Clin Neurol 2016.:887-903.
This chapter can guide the use of imaging in the evaluation of common visual syndromes: transient visual disturbance, including migraine and amaurosis fugax; acute optic neuropathy complicating multiple sclerosis, neuromyelitis optica spectrum disorder, Leber hereditary optic neuropathy, and Susac syndrome; papilledema and pseudotumor cerebri syndrome; cerebral disturbances of vision, including posterior cerebral arterial occlusion, posterior reversible encephalopathy, hemianopia after anterior temporal lobe resection, posterior cortical atrophy, and conversion blindness. Finally, practical efforts in visual rehabilitation by sensory substitution for blind patients can improve their lives and disclose new information about the brain.
- Increased pulsatile intracranial pressure in patients with symptomatic pineal cysts and magnetic resonance imaging biomarkers indicative of central venous hypertension. [Journal Article]
- J Neurol Sci 2016 Aug 15.:247-55.
In symptomatic individuals with non-hydrocephalic pineal cysts (PCs), it remains controversial what causes the symptoms. Based on magnetic resonance imaging (MRI) biomarkers, we proposed that PC-associated crowding of the pineal recess may cause central venous hypertension. The aim of this study was to compare pulsatile and static ICP in patients with PCs and chronic daily headache (CDH), and compare ICP data in PC patients with the previously identified MRI biomarkers.All patients assessed with over-night ICP monitoring for PCs or CDH who had been ruled out for idiopathic intracranial hypertension without papilledema (IIHWOP) were retrieved from the database. The symptoms as well as the pulsatile and static ICP scores were compared between the PC and CDH patients, and ICP scores were compared with the MRI biomarkers indicative of central venous hypertension.The pulsatile ICP was significantly increased in the symptomatic patients with non-hydrocephalic PCs as compared to the CDH patients. Pulsatile ICP was significantly increased in the individuals with PC-grades 3-4, who had MRI biomarkers indicative of central venous hypertension. The tectum-splenium-cyst ratio correlated positively with pulsatile ICP and an index of thalamic edema.Pulsatile ICP is increased in symptomatic patients with PCs and imaging evidence of central venous hypertension, supporting the hypothesis that PC-induced crowding of the pineal recess and venous obstruction may cause a central venous hypertension syndrome.
- [Optic neuritis in childhood. A pediatric series, literature review and treatment approach]. [English Abstract, Journal Article]
- Rev Neurol 2016 Aug 1; 63(3):103-8.
In children, the most common form of optic neuritis usually occurs after an infectious disease with papilledema, usually bilateral and has a good prognosis. Conversion to multiple sclerosis is low.To present clinical and laboratory case of optic neuritis in pediatrics features.Seventeen clinical cases of optic neuritis in children and young people aged 4-14 years, referred from 2000 to 2015 were analyzed.The median age of the series was 11 years. They predominated the female patients and infectious history was uncommon; in five of 17 patients was bilateral engagement and four cases evolved with retrobulbar optic neuritis. Magnetic resonance imaging showed hyperintensity on T2 in the optic nerves affected in five patients. The study of cerebrospinal fluid and oligoclonal bands was normal in all cases. Patients treated with intravenous methylprednisolone had good recovery. It was found subsequent evolution to multiple sclerosis only in three cases.In our series, the cases that evolved multiple sclerosis showed no clinical differences although they had a higher number of hyperintense lesions on magnetic resonance imaging. This fact, described in previous studies, supports our diagnostic and therapeutic scheme in an attempt to approach the optimal management of this disease.
- [Chronic kidney disease associated with Poems syndrome: Report of one case]. [English Abstract, Journal Article]
- Rev Med Chil 2016 Apr; 144(4):516-20.
POEMS syndrome is characterized by Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes. We report a woman with the syndrome, who had peripheral polyneuropathy, osteosclerotic myeloma, monoclonal IgA elevation, hypothyroidism, hypogonadotrophic hypogonadism, hyperprolactinemia, adrenal insufficiency, hepatosplenomegaly, lymphadenopathy, thyroid and parotid enlargement, Castleman’s disease, papilledema, stiff and hyperpigmented skin, white nails, clubbing, ascites and chronic diarrhea. She had also a nephropathy characterized by microscopic hematuria, proteinuria, renal insufficiency and a unilateral kidney retraction. She was treated with melphalan and prednisone, achieving remission of the disease and nephropathy. She survived twelve years and died due to a myocardial infarction 20 years after POEMS diagnosis.