Abstract

Hypernatremic dehydration in exclusively breast-fed neonates is associated with a free water deficit secondary to inadequate fluid intake. It is a common but underrecognized problem in the primary care setting, as the degree of dehydration can be underestimated due to fluid shifts. Neonates of primiparous mothers and those who experience greater weight loss in the first week of life are at higher risk of developing hypernatremic dehydration and most often present for care between 6 and 10 days of life. No consensus treatment guidelines exist, but most experts recommend a goal reduction rate of serum sodium levels of 0.5 mEq/L per hour with correction over 48 hours. Serum sodium level greater than 160 mEq/L is a risk factor for morbidity and mortality. Complications of hypernatremic dehydration, with seizure being most common, usually occur during improper correction. Several small studies have documented varying degrees of neurodevelopmental delay on long-term follow-up of patients admitted for hypernatremic dehydration treatment as a neonate. [Pediatr Ann. 2019;48(5):e197-e200.].

Abstract

RATIONALE The coexistence of a tuberculous aortic pseudoaneurysm and Pott disease in patients with a history of tuberculosis (TB) is relatively rare, and the treatment strategies remain still controversial. PATIENT CONCERNS A 57-year-old female patient with a history of primary pulmonary TB presented with symptoms of breathlessness, chest pain, weight loss, and fever. Magnetic resonance imaging (MRI) and computed tomography (CT) showed a thoracic aortic pseudoaneurysm secondary to Pott disease at T11/12 level. DIAGNOSES Tuberculous pseudoaneurysm at the descending thoracic aorta associated with tuberculous vertebral osteomyelitis. INTERVENTIONS We originally planned a combined surgery consisting of posterior spine stabilization, anterior excision of the infected field, and aortic reconstruction. When we surgically stabilized the posterior spine, unexpectedly, the pseudoaneurysm ruptured. Immediately, we terminated the surgery and appropriately placed an endovascular stent graft, which successfully rescued the patient. OUTCOMES When the patient's conditions were stable, we anteriorly debrided all infected tissues and then performed a spinal fusion by grafting autologous iliac bone. After the debridement and spinal fusion, we arranged a 1-year anti-tuberculous chemotherapy for this patient and performed a 24-month follow-up. This patient had no signs of recurrent infection during the follow-up. LESSONS For the patients with tuberculous aortic aneurysm(s) complicated with vertebral osteomyelitis, the endovascular repair of an aneurysm(s) should be considered a conventional therapy before the spine surgery, lowering the risk of aortic aneurysm rupture. Meanwhile, minimally invasive endovascular stent graft combined with anti-tuberculosis drugs may be considered one of the therapeutic regimens for the patients whose conditions are not suitable for open surgery, such as age, weakness, or severe organ failure.

Abstract

OBJECTIVE To verify the diagnosis of channelopathies in two families and explore the mechanism of the overlap between periodic paralysis (PP) and paramyotonia congenita (PMC). METHODS We have studied two cases with overlapping symptoms of episodic weakness and stiffness in our clinical center using a series of assessment including detailed medical history, careful physical examination, laboratory analyses, muscle biopsy, electrophysiological evaluation, and genetic analysis. RESULTS The first proband and part of his family with the overlap of PMC and hyperkalemic periodic paralysis (HyperPP) has been identified as c.2111C > T (T704M) substitution of the gene SCN4A. The second proband and part of his family with the overlap of PMC and hypokalemic periodic paralysis type 2 (HypoPP2) has been identified as c.4343G > A (R1448H) substitution of the gene SCN4A. In addition, one member of the second family with overlapping symptoms has been identified as a novel mutation c.2111C > T without the mutation c.4343G > A. CONCLUSIONS SCN4A gene mutations can cause the overlap of PMC and PP (especially the HypoPP2). The clinical symptoms of episodic weakness and stiffness could happen at a different time or temperature. Based on diagnosis assessments such as medical history and muscle biopsy, further evaluations on long-time exercise test, genetic analysis, and patch clamp electrophysiology test need to be done in order to verify the specific subtype of channelopathies. Furthermore, the improvement of one member in the pregnancy period can be used as a reference for the other female in the child-bearing period with T704M.

Abstract

BACKGROUND POEMS syndrome, a rare systemic disease, is characterized by 5 components: Peripheral neuropathy, Organomegaly, Endocrinopathy, M protein elevation, and Skin changes. It usually presents with multiplex endocrine manifestations and is easily misdiagnosed and incorrectly treated. CASE PRESENTATION We report herein a case of POEMS syndrome that initially presented as hyperpigmentation and severe pitting edema of the lower extremities. Throughout the patient's multiple hospitalizations for more than one year, he was treated erroneously for Addison's disease and primary hypothyroidism due to the presence of limb numbness and weight loss. In addition, he was misdiagnosed with diabetic peripheral neuropathy due to a history of type 2 diabetes mellitus. CONCLUSION Endocrinopathy is a critical feature of POEMS syndrome but its mechanisms are still poorly understood. The most common endocrine abnormality is hypogonadism, and the second is adrenal insufficiency, followed by hypothyroidism and subclinical hypothyroidism, then diabetes or glucose intolerance. In cases of the coexistence of endocrinopathy and unexplained peripheral neuropathy, especially in multisystem disorders, POEMS syndrome should be considered. Endocrine evaluation including thyrotropin, free thyroxine, fasting glucose, gonadal hormones, prolactin, cortisol, ACTH, and calcium should be assessed. The purpose of the current report was to provide increased awareness of POEMS syndrome.

Abstract

Background Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycemia (HH) not addressed as a potential differential diagnosis in current pediatric guidelines. We present a case of IAS in a child with no previous history of autoimmune disease, no previous intake of triggering medications and absence of genetic predisposition. Case presentation A 6-year-old boy presented with recurrent HH (blood glucose of 26 mg/dL [1.4 mmol/L] and insulin of 686 μU/mL). Abdominal imaging was normal. After multiple therapeutic failures, we hypothesized misuse of exogenous insulin and factitious hypoglycemia. Council of Guardianship had the child separated from his mother, but insulin levels remained high. A chromatography test was then performed which showed high titers of endogenous insulin autoantibody (IAA) with early dissociation from the insulin molecule. The human leukocyte antigen (HLA) test showed a DRB1 *13:01/*08:02 genotype. The patient was advised to control food intake and physical activity routines. During a 5-year follow-up, hypoglycemic episodes were sparse, despite high insulin levels. Conclusions Misdiagnosis of IAS with factitious hypoglycemia may happen if IAS is not considered as a differential diagnosis, leading to potential traumatic consequences. Further efforts should be made to increase awareness of IAS as a differential diagnosis of hypoglycemia and to include it in pediatric guidelines.

Abstract

Chylous polyserositis and autoimmune myelofibrosis occurring concomitantly inn a case of SLE are a rare phenomenon. We here report a case of a 38-year-old woman who was admitted with a history of cough and shortness of breath for 1½ months along with fever and abdominal distension for 1 month. She also had arthralgias, weight loss and pancytopenia. She was diagnosed as a case of SLE with Chylous polyserositis and autoimmune myelofibrosis. She was started on steroids and immunosuppressive therapy, to which she responded. To summarize, this is the first case report where chylous polyserositis and pancytopenia due to autoimmune myelofibrosis occurred which was responsive to steroids and immunosuppressive therapy.

Abstract

Over recent years, there has been increasing interest noted in those active substances derived from plants that show potential for preventing cancer development. The most promising candidate is resveratrol which can be found in large amounts in the skin of grapes, tomatoes and in red wine. Its beneficial effects on the human body are seen both in prevention and therapy. The anti-carcinogenic action of resveratrol is linked with its ability to neutralise reactive oxygen species and to modulate cellular processes such as apoptosis, and both cancerous cell proliferation and differentiation. This article presents the characteristics of resveratrol as a bioactive compound derived from natural sources exhibiting anti-cancer properties, which, because of a wide spectrum of biological activities may be used in the prevention of cancer. Many in vitro and animal-based studies have demonstrated such preventative anti-cancer action in the colon, prostate, breast and lungs. The beneficial effects of resveratrol are also presented when adopted as a support to conventional treatments of cancer using chemo- and radio-therapy.

Abstract

Gastrointestinal basidiobolomycosis (GIB), a rare fungal infection associated with high mortality, has been reported worldwide mainly from tropical and subtropical regions of Asia, USA, and Latin America. The clinical manifestations are highly diverse and non-specific depending on the underlying disease, but fever, abdominal pain, weight loss, diarrhea, constipation and chills have been observed. There are no prominent risk factors for GIB but climatic conditions and life style are related to this infection in arid and semi-arid regions. Therefore timely diagnosis and early treatment is a challenge. Herein, we present an unusual case of gastrointestinal basidiobolomycosis in a 54-year-old male, initially misdiagnosed as colon cancer. After follow-up, no evidence of relapse and the patient was successfully cured by liposomal amphotericin B. In addition, the differential diagnosis and histopathological findings are discussed with a review of the literature.

Abstract

BACKGROUND Colloid cysts of the third ventricle are rare, slow-growing lesions of neuroepithelial origin. Although histopathologically benign, third ventricular colloid cysts are a well-known cause of sudden, unexpected coma and death. Several theories have been proposed to describe the rare, sudden onset of severe symptomatology and rapid clinical decline due to colloid cysts. Moreover, there is currently no clear consensus regarding the most suitable neurosurgical technique or the most effective approach for resection, nor do guidelines or standardized clinical indications exist to recommend observation versus intervention and/or resection in the asymptomatic patient. To highlight this conundrum, we present a clinical case of a hemorrhagic colloid cyst that resulted in fatality and discuss the relevant literature. CASE DESCRIPTION A 21-year-old male presented to an outside hospital with an acute onset of a severe headache, nausea, and vomiting, which started while jogging. A few hours later, he precipitously declined into a comatose state. Radiographic imaging demonstrated a hemorrhagic third ventricular colloid cyst causing acute obstructive hydrocephalus, severe increased intracranial pressure, and downward herniation. He was then transferred to our institution for neurosurgical intervention. Despite aggressive cerebrospinal fluid drainage and medical management, he was declared brain dead several days later. CONCLUSIONS To our knowledge, this is the only case report to describe sudden-onset coma and death due to a hemorrhagic third ventricular colloid cyst occurring after exercising. We review the literature on fatal colloid cysts emphasizing the proposed mechanisms of sudden death and current neurosurgical management in both asymptomatic and symptomatic patients.

Abstract

Stress fractures are a common diagnosis in sports medicine and can result in significant loss of function, athlete playing time, and potentially lead to chronic symptoms. However, unusual locations of stress fractures may present with vague symptoms and a relatively benign physical exam, leading to difficulty in arriving at the correct diagnosis. Pelvic stress fractures are less common than lower-extremity stress fractures in athletes, occurring in only 1-5% of all stress fractures and typically occur in pubic rami. Furthermore, iliac bone stress fractures are even rarer, with only a few case reports in the literature. Their presentation can easily be missed on routine workup and imaging. We present two cases of the very rare superomedial iliac bone stress fracture in athletes, an unusual location for this uncommon stress fracture. We review the available literature on this condition and provide clinical commentary on workup and treatment recommendations.