No abstract

Joubert syndrome is a rare autosomal recessive neurodevelopmental disease characterized by abnormal breathing patterns composed of episodic tachypnea/apnea, hypotonia, ataxia, developmental delay, intellectual impairment, ocular impairment, renal cysts, and hepatic fibrosis. We report the case of a 4-year-old boy who presented with global developmental delay, bilateral nystagmus, and gaze instability with difficulty walking and maintaining an upright posture. A detailed examination revealed facial dysmorphic features with a depressed nasal bridge and deepened orbital sockets. Neurological examination yielded positive results for hypotonia, gait ataxia, bilateral horizontal pendular nystagmus, and a grade 1 ptosis more prominent in the right eye. However, no abnormal breathing patterns were observed in our case. Magnetic resonance imaging revealed the characteristic molar tooth sign and a batwing appearance of the fourth ventricle.

No abstract

Currently, the management strategies aimed at the resolution of migraine are pharmacological. Most of these therapies are known to alter the serotonin balance of the brain. Furthermore, therapies blocking the calcitonin gene-related peptide (CGRP) have also proven to be quite effective in their treatments. However, apart from being expensive, these therapies do not influence premonitory and aura symptoms. This suggests an incomplete approach and an inadequate understanding of the migraine pathophysiology. Recent metabolic studies have indicated that migraine should be considered as an adaptive response to the mismatch between the cerebral energy reserves and expenditure. Therefore, understanding the underlying metabolism helps derive possible novel therapeutic modalities for migraines. In this review, we highlight the underlying metabolic abnormalities found in migraine patients. This will form the basis of our evidence-based discussion on metabolic therapeutic options for migraines.

Clostridial myonecrosis is a diffuse necrotizing infection of deep soft tissues. It is known for its acute, rapid progression, poor prognosis, and high mortality. We report a case of traumatic clostridial myonecrosis, a 17-year-old, previously healthy female reported to our department with the complaint of pain in her left arm a week after she suffered a fall from her chair on to her left arm. Due to the injury sustained in the incident, under suspicion of a forearm fracture, a cast was applied to her left arm at a local polyclinic. However, after a few days, she reported unbearable pain, which led to the removal of the cast, and that is when diffuse crepitations due to gaseous accumulation were noted in her entire left upper limb. A week later, X-ray studies failed to reveal any fracture or abnormality. The patient was started on broadspectrum antibiotic coverage with intravenous (IV) benzylpenicillin, rifampicin, and clindamycin for a considerable period of time, but there was no improvement in her condition and the infection continued to spread into adjacent soft tissues, requiring intervention with hyperbaric oxygen therapy.