Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures.

Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder. An enzyme complex called branched-chain alpha-keto acid dehydrogenase (BCKAD) metabolizes branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, in the body. The deficiency of this enzyme causes the accumulation of BCAAs in cerebrospinal fluid, plasma, and urine. This metabolic illness is defined by abnormal levels of BCAAs. The pathognomonic illness marker alloisoleucine is produced in the absence of the BCKAD enzyme, which is part of a metabolic pathway involving three BCAAs and gets accumulated in the body. Classically, affected neonates present with feeding problems, vomiting, lethargy, and irritability, leading to seizures, coma, and death if left untreated. Blood and urine analysis reveals an accumulation of BCAAs in the plasma and urine. Here, we report the case of a neonate on day 10 of life with febrile seizures and non-acceptance of feeds, who was diagnosed with the classical form of MSUD. This is a classic case of MSUD which was evaluated exhaustively and revealed all classic features clinically and on investigations.

Susceptibility Weighted Imaging: An Effective Auxiliary Sequence That Enhances Insight Into the Imaging of Stroke.

AIM: To evaluate the utility of susceptibility-weighted imaging (SWI) sequence in stroke imaging and assess supplemental information provided by SWI in an acute stroke scenario. MATERIALS AND METHODS: In this study, the appearance of cerebrovascular stroke on the SWI images were analyzed in 50 patients who presented with acute-onset neurological symptoms. RESULTS: Brain MRI with SWI was performed on 50 patients presenting with acute neurological symptoms. The majority were males, 32/50 (64%) and 18/50 (36%) were females. Most of the patients were in the age group > 60 years (36%), followed by 50-60 years (22%). Most of the patients had bilateral pathology, 20 (40%). The majority of patients had supratentorial lesions 34 (68%). Among 50 patients, the majority of patients had arterial stroke 20 (40%) and cerebral venous sinus thrombosis (CVST) 20 (40%) followed by amyloid angiopathy five (10%), and five (10%) had hypertensive microhemorrhage. Among the 20 patients with arterial stroke, the majority had middle cerebral artery (MCA) thrombosis 10 (50%) and among the 20 patients with venous thrombosis, eight (40%) patients had hemorrhagic infarcts. SWI was better as compared to computed tomography (CT) (P<0.05) in the detection of hemorrhagic transformation of arterial infarct, cerebral hemorrhagic venous sinus thrombosis, hemorrhagic venous infarct, hypertensive microhemorrhage, and cerebral amyloid angiopathy. CONCLUSION: SWI is a useful imaging sequence that provides additional information on stroke patients. SWI requires only an additional three-four minutes to perform and can be easily incorporated into standard stroke protocol. SWI can identify various features such as hemorrhage, intraarterial thrombus, or concomitant microbleeds that are of prognostic value and affect therapeutic decisions.

Role of Magnetic Resonance Imaging in the Evaluation of Rotator Cuff Tears.

Background Magnetic resonance imaging (MRI), with the advent of surface coils, is becoming the modality of choice for imaging soft tissues around the shoulder joint. Good knowledge regarding the MR characteristics of rotator cuff tendons, acromion, and the abnormalities in these tendons is necessary for appropriate diagnosis. Methods This was a hospital-based descriptive, analytical and prospective study conducted at our tertiary care hospital. The study was performed on 50 patients with rotator cuff lesions detected on MRI of the shoulder joint. Results The age distribution found in the study is between 19 and 66 years with mean being 43 ± 14.8 years. The peak incidence was found in the fifth and sixth decades of life. Gender-wise distribution of rotator cuff pathologies has shown no significant gender variation. The pain was the most common presenting complaint. An abnormal supraspinatus tendon was seen in 82% of the 50 study patients, making it the most commonly affected tendons, followed by subscapularis and infraspinatus tendons. No apparent teres minor pathology was identified in the study patients. The most common pathology affecting the supraspinatus tendon was tendinosis (38%) closely followed by a partial tear (36%). Among the partial tears, the articular surface type of tear was the most common. About 52% patients had type II (curved) acromion; making it the most common type of acromion followed by type III (hook), supraspinatus tendinopathy was more common in type II acromion. A reduction in the acromiohumeral distance can cause supraspinatus tendinosis and also makes it more susceptible to tear. About 45.5% showed supraspinatus tendon tears when the acromiohumeral distance was less than 8mm as compared to 13.6% when more than 10mm. Only 4.2% had normal supraspinatus tendon in patients with this distance less than 7mm. Conclusion MRI provides valuable information to the orthopaedic surgeon regarding the status of tendons, bones, and joints. In order to choose the appropriate course of action, it is crucial first to identify the issue and report relevant data from rotator cuff imaging. A full grasp of the rotator cuff's architecture and function, as well as the repercussions of rotator cuff diseases, is required.