ABSTRACT
We present a case of a 6-week-old infant who presented with seizure-like activity. Workup revealed abnormal coagulation and imaging confirmed intracranial hemorrhage. Parental refusal of vitamin K treatment at birth suggested vitamin K deficiency bleeding (VKDB) in this newborn. Though VKDB is rare in developed countries, rates have been rising which coincides with an increasing trend of parental refusal of vitamin K prophylaxis at birth.
Subject(s)
Vitamin K Deficiency Bleeding , Humans , Infant , Infant, Newborn , Intracranial Hemorrhages/complications , Intracranial Hemorrhages/etiology , Vitamin K/therapeutic use , Vitamin K Deficiency Bleeding/complications , Vitamin K Deficiency Bleeding/diagnosis , Vitamin K Deficiency Bleeding/drug therapyABSTRACT
Background: Burkitt lymphoma (BL) is a common tumor of childhood that usually arises in the abdomen or pelvis in its sporadic form. In a minority of cases, BL can present with CNS involvement, usually as a secondary site. Rarely, BL can arise primarily in the epidural space and present with back pain, or less commonly, acute myelopathy. This presentation is a surgical emergency and requires vigilant management. Case Description: We describe a case of pediatric BL arising primarily within the epidural space and presenting with progressive difficulty walking in a 3-year-old boy. Progression to complete inability to walk, absent lower extremity deep tendon reflexes, and new urinary incontinence prompted MRI of the spine, which showed a lesion extending from T5 to T10 and wrapping around the anterior and posterior portions of the spine with evidence of spinal cord compression. The patient underwent decompressive laminectomies from T5 to T10 and partial debulking of the posterior portions of the tumor. Microscopic examination showed a prominent "starry sky" pattern with abundant mitotic figures. Immunohistochemistry confirmed the diagnosis of BL. The patient is 10 months post-op and continues to undergo chemotherapy with partial neurologic improvement. He was free of recurrence 10 months post-operative. Conclusion: This appears to be the youngest described patient presenting with acute myelopathy in primary paraspinal BL. Management should include surgical decompression of the spinal cord followed by one of the various described chemotherapeutic regimens. Preoperative staging and neurologic function correlate with prognosis.
ABSTRACT
Here we describe a cutaneous neonatal myeloid sarcoma (MS) case with a subsequent diagnosis of acute myeloid leukemia (AML) seven days later. Cytogenetic studies were unusual demonstrating a triple copy of KAT6A abnormality and complex 8;14;22 translocation involving the 8p11.2 region. MS may be the initial finding suggesting associated AML; therefore, the diagnosis of cutaneous MS may allow for expeditious evaluation/treatment of such leukemic disorders.
Subject(s)
Sarcoma, Myeloid , Skin Neoplasms , Infant, Newborn , Humans , Sarcoma, Myeloid/diagnosis , Skin Neoplasms/diagnosis , Skin Neoplasms/genetics , Histone AcetyltransferasesABSTRACT
We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monitoring who was found to have severe anemia at birth that could not be explained by acute blood loss. He was born to a 24-year-old mother, whose pregnancy was complicated by abnormal ultrasound findings, including a radial ray defect and fetal growth restriction. Trio rapid whole-exome sequencing (rWES) confirmed Diamond-Blackfan anemia in both the neonate and mother. This case highlights the importance of fetal surveillance and the clinical utility of rWES in the neonatal intensive care setting.
