RESUMO
Scurvy is a rare clinical syndrome resulting from prolonged vitamin C deficiency and is uncommon in the Gulf area. It can present with non-specific symptoms, making diagnosis and treatment challenging. In pediatric patients, symptoms may include weight loss, lethargy, low-grade fever, anemia of varying degrees, easy bruising or bleeding, joint and muscle pain, and poor wound healing. Despite advances in healthcare in many Gulf countries, nutritional deficiencies can still occur in certain populations. Therefore, it is important for pediatricians, orthopedists, rheumatologists, and radiologists to consider scurvy in the evaluation of children with low-grade, multisystemic involvement. We report a case of a six-year-old boy who presented to the emergency department (ED) multiple times with progressive right (RT) leg pain. The clinical picture and imaging findings suggested chronic recurrent multifocal osteomyelitis (CRMO). Despite symptom progression, scurvy was ultimately diagnosed and treatment with vitamin C led to rapid resolution of his symptoms. This case highlights the importance of considering scurvy in the differential diagnosis of children with multisystemic involvement, especially in regions where nutritional deficiencies may be more prevalent.
RESUMO
Necrotizing enterocolitis (NEC) following postoperative stress is a rare but life-threatening condition in infants. We report a 3-month-old infant who underwent bilateral inguinal hernia repair and developed NEC. This is the first reported case of an infant developing recurrent NEC with stricture formation after herniotomy. Timely recognition and management are vital due to potentially high mortality rates in severe cases. High index of suspicion is crucial for accurate diagnosis and appropriate management.
RESUMO
Neonatal cushing syndrome (NCS) is a rare disease that results from prolonged exposure to high cortisol levels. McCune-Albright syndrome (MAS) is an exceedingly rare genetic disorder characterized by cafe-au-lait skin spots, bone fibrous dysplasia and multiple endocrinopathies. We describe a case of a premature neonate with Intrauterine Growth Retardation who presented with hypercortisolemia, neonatal transaminitis and cardiac dysfunction. Further evaluation revealed significant bilateral adrenal hyperplasia leading to the diagnosis of NCS as part of MAS. Despite maximum medical therapy, including metyrapone, the baby's refractory hypertension, hyperglycemia and persistent failure to thrive (weight of 1.4 kg at corrected age 38 weeks) necessitated bilateral adrenalectomy. This case did not initially demonstrate the classic MAS triad, notably, the absence of skeletal manifestations. There has been no previous description of a baby who has had all the early life-threatening features present and survived beyond 18 months. This case highlights the severity of the phenotype and the challenges involved in diagnosing and treating NCS and MAS in neonates.