Does Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?

Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-month-old female infant diagnosed with TRMA syndrome at an early age. There was no hearing loss at the time of diagnosis. The patient’s initial auditory evoked brainstem response measurements were normal. Although she was given thiamine supplementation regularly following the diagnosis, the patient developed moderate sensorineural hearing loss at 20 months of age, indicating that early diagnosis and treatment with oral thiamine (100 mg/day) could not prevent deafness in TRMA syndrome. It would be premature to draw general conclusions from one case, but we believe that further patient-based observations can shed light on the pathophysiology of this rare syndrome as well as prediction of its prognosis

The Value of Coronal STIR MR Imaging On Evaluation of Pediatric Patients with Hodgkin's Lymphoma

Introduction: In Hodgkin’s Lymphoma (HL), PET-CT is the ‘‘gold-standard’’ examination for clinical staging. However in HL, MR imagingwith whole-body screening also widely used for ease of accessibility and examination, lack of ionizing radiation and radioactive substances.However, not enough study has been found in the literature in this regard.Material and Method: Whole-body coronal STIR sequential MR findings were compared with PET-CT findings which is done for staging andfollow-up of 15 children with HL, between February 2016 and October 2017, in our clinic.Results: Nodal findings and extra-nodal findings were documented according to the location and the presence of suspicious or malignantfeatures in 15 patients (7 females) with a mean age of 12.9 (3-17) years. In 14 cases, nodular findings were compatible, whereas in one case,cervical lymp nodes considered as benign in MRI were suspicious in PET-CT due to mild hypermetabolism. We found that coronal STIR MRimaging has an important contribution to the evaluation of nodular and extra-nodular findings of HL.Conclusion: While whole-body STIR MR imaging for HL staging and follow-up makes a significant contribution in appropriate indications,larger series required.Keywords: Hodgkin’s Lymphoma, MRI, pediatric, STIR</p

Hepatitis-associated aplastic anemia in pediatric patients: single center experience.

Introduction: Hepatitis-associated aplastic anemia is a rare type of acquired aplastic anemia that occurs after hepatitis. This study investigated cases with hepatitis-associated aplastic anemia