Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.

PURPOSE: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim to describe cerebral volumetric findings in a group of Spanish patients with neurotransmitter disorders. METHODS: Fifteen 3D T1-weighted brain images from the International Working Group on Neurotransmitter related Disorders Spanish cohort were assessed (eight with monoamine and seven with amino acid disorders). Volumes of cortical and subcortical brain structures were obtained for each patient and then compared with those of two healthy individuals matched by sex and age. RESULTS: Regardless of the underlying disease, patients showed a smaller total cerebral tissue volume, which was apparently associated with clinical severity. A characteristic volumetric deficit pattern, including the right Heschl gyrus and the bilateral occipital gyrus, was identified. In severe cases, a distinctive pattern comprised the middle and posterior portions of the right cingulate, the left superior motor area and the cerebellum. In succinate semialdehyde dehydrogenase deficiency, volumetric affection seems to worsen over life. CONCLUSION: Despite the heterogeneity and limited size of our cohort, we found novel and relevant data. Total volume deficit appears to be a marker of severity, regardless of the specific neurotransmitter disease and irrespective of the information obtained from conventional neuroimaging. Volumetric assessment of individual brain structures could provide a deeper knowledge about pathophysiology, disease severity and specific clinical traits.

Severe skin and soft tissue pythiosis acquired in a hot spring in the southwestern United States, a case report and review of North American cases.

BACKGROUND: Human pythiosis, caused primarily by the aquatic oomycete, Pythium insidiosum, is an emerging but uncommon infection in North America. The infection is frequently life-threatening and is often initially unrecognized due to its rarity and similar presentation to certain fungal infections. METHODS: We report a case of skin and soft tissue pythiosis in a patient without significant underlying comorbidities acquired in a New Mexico hot spring and review its successful treatment. We also review all reported pythiosis cases in North America. RESULTS: Eleven confirmed cases of human pythiosis acquired in North America were identified. The majority of cases occurred in children (64%), ten of eleven cases were acquired in the southern U.S., Mexico, Central America or the Caribbean and four of the eleven individuals succumbed to the infection. CONCLUSIONS: With recognition and aggressive surgical and medical treatment good clinical outcomes can be achieved when treating human pythiosis.

An Atypical Presentation of Sporadic Jejunal Burkitt's Lymphoma.

Burkitt's lymphoma is a very aggressive type of B-cell NHL with replication approaching 100%. Primary gastrointestinal lymphoma is rare. In our case, a 24-year-old male initially presented with symptomatic anemia. He was initially evaluated with colonoscopy and EGD, both of which were unremarkable. A capsule endoscopy was then performed to further evaluate his significant anemia which revealed friable inflamed ulcerated mass in the jejunum. A push enteroscopy was then performed to obtain tissue from the jejunal mass. Biopsy results and immunohistochemical stains were consistent with Burkitt's lymphoma. PET/CT scan revealed only jejunal involvement. Treatment consisted of bowel resection prior to chemotherapy due to concern for perforation with chemotherapy. Patient achieved complete remission after the treatment.

Epilepsy in biotinidase deficiency after biotin treatment.

Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis. Clinical features normally appear within the first months of life, between two and five. Seizures are one of the most common symptoms in these patients (55%), usually presented as generalized tonic-clonic, and improving within 24 h of biotin treatment. Treatment delay has been associated with irreversible neurological damage, mental retardation, ataxia, paraparesis, deafness, and epilepsy exceptionally.We report the case of a girl who was admitted at 2.5 months because of vomiting, failure to thrive, flexor spasms, dermatitis, and neurological depression for 1 month. BD was identified and was treated with biotin, stopping seizures and improving symptoms. Developmental delay, paraparesis, optic atrophy, and seizures during febrile illness were observed at follow-up. At the age of 8, she suffered hemigeneralized seizures despite appropriate biotin treatment, so levetiracetam was administered, and epilepsy was controlled. Organic acid measurement was performed to determine whether the child was receiving enough or no biotin.Even though BD is a rare condition, because the biotinidase screening is a reliable procedure and the disorder is readily treatable, the implementation of extended biotinidase screening will effectively help to prevent any acute and long-term neurological problems as well as the significant morbidity associated with untreated disease. In addition, neonatal screening and early treatment with biotin prevents severe neurological sequelae, such as epilepsy, which has not been thoroughly described in the literature.

The significance of high-risk human papillomavirus detection in women aged > or = 50 years with atypical squamous cells of undetermined significance cytologic preparations.

BACKGROUND: The use of high-risk human papillomavirus (HRHPV) testing in the triage of women with a cytologic diagnosis of atypical squamous cells of undetermined significance (ASC-US) has gained widespread acceptance. To date, very little has been reported on the significance of the detection of HRHPV in elderly women. METHODS: Results of HRHPV testing performed on women aged > or =50 years were examined for a 20-month period. Reflex testing for HRHPV was performed on residual liquid-based cytology specimens from women who were diagnosed with ASC-US by using the Digene Hybrid Capture method. Follow-up information on women who had HRHPV detected was obtained from subsequent pathology reports (cytology and surgical). RESULTS: HRHPV testing was performed on 762 specimens from women aged > or =50 years; virus was detected in 105 specimens (13.8%), and follow-up was available in 63 of those women (60%). Follow-up results included negative tests in 32 women (50.8% of those with follow-up available), low-grade squamous intraepithelial lesion in 26 women (41.3%), and high-grade squamous intraepithelial lesion (HSIL) in 5 women (7.9%). No glandular neoplasia or invasive carcinoma was identified. Relative light units/cutoff (RLU/CO) values ranged from 1 RLU/CO to 1705 RLU/CO; no significant associations were identified between RLU/CO values and follow-up results. CONCLUSIONS: Although HRHPV was detected in a minority of samples, HSIL was present in 7.9% of those with HRHPV. This confirms that the presence of HRHPV in women aged > or =50 years with ASC-US specimens needs clinical follow-up. There were no significant differences in RLU/CO values between women with positive versus negative follow-up to allow for further discrimination for follow-up.