A Case Report on Tricho-Hepato-Enteric Syndrome: The SKIC3 Gene in Focus.

Tricho-hepato-enteric syndrome (THES), also known as syndromic diarrhea, is a rare genetic disorder that causes intractable diarrhea, hair anomalies, facial dysmorphism, and liver abnormalities. Herein, we report the case of an eight-month-old male who was referred to our hospital due to symptoms of diarrhea, vomiting, and insufficient weight gain. The child was born via cesarean section following an uncomplicated pregnancy, with no history of admission to the neonatal intensive care unit (NICU). Since birth, the patient has been experiencing diarrhea and inadequate weight gain, necessitating multiple hospital admissions. Upon evaluation, genetic testing confirmed the diagnosis of THES. The management strategy included a variety of nutritional interventions and supportive care measures. Currently, the patient is in the pediatric intensive care unit (PICU), receiving total parenteral nutrition (TPN) and continuous supportive care. This case underscores the complexity of diagnosing and managing THES, highlighting the need for comprehensive care and close monitoring of the patient's condition.

Unraveling a Rare Case of Epidural Extramedullary Hematopoiesis in a Patient With Transfusion-Dependent Beta Thalassemia Presenting With Spinal Cord Compression.

Thalassemia is known to induce extramedullary hematopoiesis (EMH), which is a compensatory mechanism in which the body forms blood cells outside the bone marrow. While EMH typically affects organs such as the spleen and liver, there are rare instances where it leads to spinal cord compression (SCC) in the epidural space. A 31-year-old male patient with transfusion-dependent beta thalassemia presented with numbness and bilateral limb weakness due to EMH. Neurological examination revealed increased tone in both legs, reduced power, loss of crude touch and pain sensation, and increased deep tendon reflexes. Magnetic resonance imaging (MRI) indicated a lobulated soft tissue structure in the posterior dural intrathecal space causing SCC. Laminectomy of the T2-T8 vertebrae was done, after which the lesion was identified and completely removed. Post-surgery, significant neurological improvements were observed in both motor and sensory functions. Thalassemia patients presenting with symptoms of SCC should be investigated for the presence of epidural EMH. Treatment options include decompressive surgery, blood transfusions, hydroxyurea, and radiotherapy.

Successful Treatment of Chronic Disseminated Candidiasis Complicated by Immune Reconstitution Inflammatory Syndrome in a Child With Acute Lymphocytic Leukemia.

Chronic disseminated candidiasis (CDC) is a severe form of disseminated fungal infection that commonly affects the liver, spleen, and kidneys. In rare cases, CDC can be further complicated by an excessive immune response known as immune reconstitution inflammatory syndrome (IRIS). This syndrome occurs during the phase of immune recovery and is characterized by a systemic inflammatory response and excessive release of cytokines. We present a case of a two-year-old female with a medical history of acute lymphocytic leukemia on chemotherapy. She was admitted with high fever refractory to conservative management that included broad-spectrum antimicrobials. Additionally, multiple skin lesions and a left-sided limp were noted. Whole-body imaging revealed multiple abscesses in the spleen, kidneys, scalp, and left lower limb. The culture of an aspirate material from skin lesions grew Candida tropicalis. Despite receiving appropriate antifungals, the patient showed no signs of improvement, leading to the diagnosis of CDC-induced IRIS. The patient was started on systemic corticosteroids, which resulted in rapid improvement in the patient's clinical status, resolution of fever, and significant reduction in inflammatory markers.

Hydroxocobalamin as Rescue Therapy in a Patient With Refractory Amlodipine-Induced Vasoplegia.

Vasoplegic syndrome is a type of distributive shock characterized by mean arterial pressure of less than 65 mmHg, with normal to high cardiac output and often refractory to fluid resuscitation, high doses of intravenous vasopressors, and inotropes. It is usually observed after cardiac and solid organ transplantation surgeries. Here, we report a 56-year-old female patient who presented with a profound vasoplegia manifesting as lethargy and confusion in the setting of amlodipine toxicity. This case of severe vasoplegia was refractory to all conditional lines of medical management reported in the literature. The mainstay treatment modalities for vasoplegia include volume resuscitation, catecholamines, vasopressin, angiotensin II, and possibly methylene blue in unresponsive cases. Our patient was given hydroxocobalamin in favor of methylene blue, given the history of serotonin reuptake inhibitors use, which would have caused a life-threatening serotonin syndrome. Hydroxycobolamine resulted in a dramatic clinical recovery, suggesting its potentially significant role in refractory vasoplegia.