A Rare Case of Cord Compression From Extra-Medullary Hematopoiesis (EMH) in Beta Thalassemia.

Cord compression can arise from many different etiologies -- including trauma, degenerative changes, growths, neoplasms, or even abscesses. While some etiologies can cause symptoms such as weakness or motor deficits, others can simply present as pain. A rare cause of cord compression is extramedullary hematopoiesis (EMH), or the growth of blood cells outside the bone marrow. This rare, abnormal growth of cells can result in severe complications such as increased intracranial pressure and motor and sensory impairment. General clinicians should strive for early and prompt diagnosis of cord compression whenever possible, especially in patients who present with acute neurological deficits. We present a case of a 27-year-old female with beta thalassemia major (BTM) and transfusional hemosiderosis, who came in with progressive lower extremity weakness, numbness and urinary retention, and was diagnosed with acute cord compression from EMH.

Correction: A Rare Case of Cord Compression From Extra-Medullary Hematopoiesis (EMH) in Beta Thalassemia.

[This corrects the article DOI: 10.7759/cureus.38520.].

Femur Fracture in a Premature Infant: An Unusual Association of Sickle Cell Disease with Osteogenesis Imperfecta.

BACKGROUND Bone health is influenced by multiple factors, including genetic disorders such as osteogenesis imperfecta (OI) and sickle cell disease (SCD). OI is a genetic disorder caused by mutations in genes that encode type 1 collagen. Type 1 collagen synthesizes bones, skin, and other connective tissues. Defective synthesis can lead to brittle bones and other abnormalities. Patients with OI present with spontaneous fractures. SCD is an autosomal-recessive disorder resulting in a major hemolytic anemia. The formation of sickle hemoglobin results in increased blood viscosity and sickling of red blood cells, which causes painful vaso-occlusive crisis in bones and joints, acute chest syndrome, and stroke. CASE REPORT We present the case of an infant with a dual diagnosis of OI and SCD. The patient was born at 26 6/7 weeks gestational age to a mother who had sickle trait. The infant was admitted to the Neonatal Intensive Care Unit for prematurity and respiratory distress with a clinical course that was complicated by other comorbidities. Newborn screening revealed a diagnosis of SCD-SS type. At 83 days of life, the infant presented with swelling and tenderness of the left leg. Imaging revealed a non-displaced fracture of the femoral shaft. The patient was evaluated for OI and genetic testing confirmed the diagnosis of OI type 1. CONCLUSIONS An association between SCD and OI is rare. The impact of these 2 major diagnoses on clinical features and outcome as well as challenges to care remains to be seen.

A Case of Kikuchi-Fujimoto Disease in a 7-Year-Old African American Patient: A Case Report and Review of Literature.

BACKGROUND Kikuchi-Fujimoto disease (KFD) is a rare self-limited necrotizing lymphadenitis which is likely under-diagnosed in pediatric patients who present with fever of unknown origin and lymphadenopathy. Definitive diagnosis is challenging as it requires an invasive open lymph node biopsy or lymph node needle aspiration cytology that shows pathologic findings of histiocytic necrotizing lymphadenitis. CASE REPORT We report the case of one of the youngest patients diagnosed with KFD in the United States, at the age of 7 years. KFD has a higher prevalence in patients of Asian descent, but this patient was an African American. This case report shows the often convoluted and complicated course these patients undergo with their presenting complaints of fever of unknown origin and lymphadenopathy and highlights particular clinical findings that suggest KFD. CONCLUSIONS This patient is one of the youngest persons diagnosed with KFD in the United States, with an atypical ethnic background. It is likely that KFD is under-recognized and under-diagnosed in this population. With a broad differential diagnosis for fever of unknown origin and lymphadenopathy, awareness of KFD as a potential diagnosis may reduce other unnecessary investigations. The increased risk of patients with KFD of developing systemic lupus erythematosus (SLE) accentuates the importance of an accurate diagnosis and appropriate referral for heightened surveillance after recovery.

Neurological Complications following Blood Transfusions in Sickle Cell Anemia.

In Sickle Cell Anemia (SCA) patient blood transfusions are an important part of treatment for stroke and its prevention. However, blood transfusions can also lead to complications such as Reversible Posterior Leukoencephalopathy Syndrome (RPLS). This brief report highlights two cases of SCA who developed such neurological complications after a blood transfusion. RLPS should be considered as the cause of neurologic finding in patients with SCA and hypertension following a blood transfusion.

Metastatic Colon Cancer in an 18-Year-Old without Predisposing Factors.

While colorectal carcinoma is a common gastrointestinal cancer in adults, it is rare in pediatrics with an incidence of 1 : 1,000,000 and represents a fraction of neoplasms encountered in children. Malignant neoplasms represent a major cause of mortality in the pediatric age group. While presenting with weight loss, iron deficiency, rectal bleeding, abdominal pain, and change in bowel habits, or symptoms similar to acute appendicitis, the working diagnosis may be considered to be anorexia. This case illustrates the importance of considering colon cancer among other disease entities as a cause of unintentional weight loss in adolescents. While this is a rare occurrence in the pediatric population, significant unintentional weight loss with altered bowel habits should prompt a search for underlying malignancy-even in the absence of a positive family history or predisposing cancer syndromes.

A young adult Jehovah's Witness with severe anemia.

Two of the most ethically complex situations in pediatrics are those involving families whose religious beliefs preclude the provision of life-sustaining treatment and those involving young adults who have reached the age of legal majority and who face decisions about life-sustaining treatment. This month's "Ethics Rounds" presents a case in which these 2 complexities overlapped. An 18-year-old Jehovah's Witness with sickle cell disease has life-threatening anemia. She is going into heart failure. Her doctors urgently recommend blood transfusions. The young woman and her family adamantly refuse. Should the doctors let her die? Is there any alternative?

Myringotomy and tympanostomy tube placement in children with sickle cell disease.

OBJECTIVE: To assess the event rate of myringotomy and tube placement (M&T) in the pediatric patient population with sickle cell disease (SCD). METHODS: Four hundred and forty-nine children with confirmed SCD have been followed over a period of 11.5 years at two hospital-based pediatric hematology and otolaryngology offices, and three tertiary care hospitals. Children with SCD who had undergone M&T were identified via computer search of International Classification of Diseases codes by the medical records departments of the three hospitals, and from two databases of the hematology offices. The inpatient and outpatient medical records of all children identified were reviewed. RESULTS: For the 449 patients, mean duration of SCD follow-up was 6.13 +/- 3.36 years. Of these, eight patients (four boys, four girls, mean age 9 +/- 3.5 years; four patients had hemoglobin SC disease, and four patients had sickle cell anemia type SS) underwent M&T. Two children met criteria for severe SCD. The event rate for M&T insertion was 0.29/100 person-years, 95% CI (0.15, 0.58). CONCLUSIONS: The event rate for M&T in children with SCD, compared to a historical control group, is lower than that of the general population. Type and severity of SCD were not predictive of the need for tube insertion. Children with sickle cell disease do not have an increased rate of M&T insertion.