Bimelic symmetric Hirayama disease: Spectrum of magnetic resonance imaging findings and comparative evaluation with classical monomelic amyotrophy and other motor neuron disease.

Background: The aim of the study was to evaluate the magnetic resonance imaging (MRI) findings in bilateral symmetrical Hirayama disease and find out MRI features which are probably more indicative of symmetrical Hirayama disease, thereby help in differentiating this entity from other motor neuron disease (MND). Methods: This prospective as well as retrospective study was carried out from December 2010 to September 2016 in a tertiary care center of northeast India on 92 patients with Hirayama disease. Only 19 patients having bilateral symmetric upper limb involvement at the time of presentation were included in this study sample. Results: Nineteen patients, who constituted 20.6% of 92 patients of clinical and flexion MRI confirmed Hirayama disease were found to have bilateral symmetrical wasting and weakness of distal upper limb muscles at the time of presentation. Mean ± standard deviation (SD) age of onset of the disease process was 21.7 ± 3.8 years with mean ± SD duration of illness of 3.6 ± 1.3 years. MRI revealed lower cervical cord flattening in 13 (68.4%) patients which was symmetrical in 6 (31.6%) patients and asymmetrical in 7 (36.8%) patients. In the majority of these patients, T2-weighted images (T2WI) cervical cord hyperintensities were found extending from C5 to C6 vertebral level. Seven (36.8%) patients in our study showed bilateral symmetric T2WI hyperintensities in anterior horn cells (AHC). Conclusion: Bilateral symmetrical involvement of Hirayama disease is an uncommon presentation. Symmetrical cervical cord flattening, T2WI cord and/or bilateral AHC hyperintensities were the major MRI findings detected. Flexion MRI demonstrated similar findings in both bimelic amyotrophy and classical unilateral amyotrophy. However, flexion MRI produced some distinguishing features more typical for bilateral symmetrical Hirayama disease which help to differentiate it from other MNDs.

Spectrum of MRI Appearance of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome in Primary Amenorrhea Patients.

INTRODUCTION: Mayer-Rokitansky-Kuster-Hauser (MRKH) synd-rome is a malformation in female genital tract due to interrupted embryonic development of para-mesonephric ducts leading to uterine and proximal vagina aplasia or hypoplasia. AIM: To analyse the MRI findings in females suspected of MRKH syndrome in a primary amenorrhea workup. MATERIALS AND METHODS: A cross-sectional study comprising of 11 patients of MRKH syndrome presented in a tertiary care centre from March 2016 to February 2017 evaluated in 1.5 Tesla MRI scanner. RESULTS: Normal positioned small vestigial uterus demonstrated in two patients (18.2%) and complete uterine and proximal vaginal agenesis were noted in nine patients (81.8%). The mean volume of rudimentary right uterine bud was 2.26 mL ±3.3 (SD) and left uterine bud was 1.27 mL±1.1 (SD). The mean volume of right ovary was 4.74 mL±2.58 (SD) and left ovary was 4.65 mL±2.2 (SD). The mean developed vaginal length was 26.2 mm±6.34 (SD). CONCLUSION: The rudimentary uterine buds associated with MRKH syndrome always maintained caudal relationship with ovary. Ovaries or rudimentary uterine buds can be ectopic and should be recognized with MRI before undergoing fertility treatment. Following MRI diagnosis, surgery allows patients to have sexual function with possible attainment of reproduction after assisted reproduction technique or surrogacy.

Extra-pituitary Cerebral Anomalies in Pediatric Patients of Ectopic Neurohypophysis: An Uncommon Association.

CONTEXT: Ectopic neurohypophysis (EN) refers to an interrupted, nonvisualized, and thinned out pituitary stalk with ectopic location of the posterior pituitary gland. Concurrent extra-pituitary cerebral and extra-cranial anomalies have been rarely reported in patients of EN. AIM: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of extra-pituitary cerebral anomalies in pediatric patients of EN. SETTINGS AND DESIGN: A hospital-based cross-sectional study was conducted in a tertiary care center. SUBJECTS AND METHODS: The study group comprised eight pediatric patients of EN associated with extra-pituitary cerebral or vascular anomalies. Clinical and biochemical assessment was done in all patients. RESULTS: Out of the total eight patients with EN, MRI showed interrupted pituitary stalk in five patients (62.5%) and nonvisible pituitary stalk in three patients (37.5%). Ectopic posterior pituitary bright spot was demonstrated in median eminence in six patients (75%), faintly visualized in one patient (12.5%) and nonvisualized in another one patient. Statistical significant association was noted between pituitary gland height and patient's body height with the pituitary gland volume (P < 0.001). Varied extra-pituitary cerebral anomalies encountered in our patients ranged from isolated anomalies such as optic nerve hypoplasia in three patients (37.5%), corpus callosum dysplasia in four patients (50%), agyria-pachygyria complex in two patients (25%), and intracranial vascular anomalies in two patients to syndromic association of tuberous sclerosis in one patient. CONCLUSION: Identifying and reporting of associated extra-pituitary cerebral anomalies in patients with EN are crucial in assessing the overall neurological outcome of such patients.

Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients.

OBJECTIVE: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of caudal regression syndrome (CRS) and concomitant anomalies in pediatric patients. MATERIALS AND METHODS: A hospital-based cross-sectional retrospective study was conducted. The study group comprised 21 pediatric patients presenting to the Departments of Radiodiagnosis and Pediatric Surgery in a tertiary care hospital from May 2011 to April 2016. All patients were initially evaluated clinically followed by MRI. RESULTS: In our study, 21 pediatric patients were diagnosed with sacral agenesis/dysgenesis related to CRS. According to the Pang's classification, 2 (9.5%) patients were Type I, 5 (23.8%) patients were Type III, 7 (33.3%) patients were Type IV, and 7 (33.3%) patients were of Type V CRS. Clinically, 17 (81%) patients presented with urinary incontinence, 6 (28.6%) with fecal incontinence, 9 patients (42.9%) had poor gluteal musculatures and shallow intergluteal cleft, 7 (33.3%) patients had associated subcutaneous mass over spine, and 6 (28.6%) patients presented with distal leg muscle atrophy. MRI showed wedge-shaped conus termination in 5 (23.8%) patients and bulbous conus termination in 3 (14.3%) patients above the L1 vertebral level falling into Group 1 CRS while 7 (33.3%) patients had tethered cord and 6 (28.6%) patients had stretched conus falling into Group 2 CRS. CONCLUSION: MRI is the ideal modality for detailed evaluation of the status of the vertebra, spinal cord, intra- and extra-dural lesions and helps in early diagnosis, detailed preoperative MRI evaluation and assessing concomitant anomalies and guiding further management with early institution of treatment to maximize recovery.