Shwachman Diamond Syndrome: an emergency challenge

Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic analysis. Sometimes, a life-threatening event may be the first clinical manifestation of the syndrome

Nutritional status in the pediatric oncology patients

Nutritional status plays a vital role in the growth of children. In pediatric patients, disease-related malnutrition is a dynamic and multifactorial process supported by several factors such as inflammation, increased energy expenditure, decreased intake or reduced utilization of nutrients. In pediatric patients with malignancies, sarcopenia may coexist with malnutrition, amplifying its negative impact on prognosis. Careful monitoring of nutritional status both at diagnosis and during chemotherapy treatment allows early detection of the risk and/or presence of malnutrition. A rapid and personalized nutritional intervention can improve adherence to treatment, reduce complications and improve the patients' quality of life

Shwachman Diamond Syndrome: an emergency challenge

Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic analysis. Sometimes, a life-threatening event may be the first clinical manifestation of the syndrome

Treatment and Long-Term Sequelae in Childhood Brain Tumors

In children treated for brain tumors, important deficits in cognitive development have been described. The reduction of Intelligence Quotient (IQ) is correlated with multiple conditions such as tumor location, obstructive hydrocephalus, surgical intervention, and above all, the use of radiotherapy, especially in young children. Demyelinization represents the most striking microscopic alteration following radiation: cerebral white matter's loss and failure to white matter development could partly account for changes in IQ score.Recently, combined chemo-radiotherapeutic approaches and the improvement of radiotherapy techniques have enabled the reduction of neurocognitive symptoms and improved the standard of life of childhood brain tumor survivors

Hemophagocytic lymphohistiocytosis and visceral leishmaniasis in children: case report and systematic review of literature

Hemophagocytic lymphohistiocytosis is a potentially fatal disorder resulting from excessive activation and non-malignant proliferation of T lymphocytes and macrophages. Neoplasms, autoimmune disorders and systemic infections can cause secondary hemophagocytic syndrome. The association of hemophagocytic syndrome and visceral leishmaniasis is rarely found in childhood. We report a case of an infant affected by hemophagocytic lymphohistiocytosis secondary to visceral leishamniasis and describe all cases of hemophagocytic syndrome associated with visceral leishamniasis in childhood reported in literature, focusing on clinical manifestation, diagnosis and treatment

Aplastic anaemia in childhood. Description of two cases and review of the literature

AbstractChildhood aplastic anaemia (AA) is an uncommon but potentially fatal haematological disorder. Patients with AA receive supportive care based on transfusions and timely treatment of opportunistic infections, along with specific therapies, which may be bone marrow transplantation and immunosuppressive therapy. Early diagnosis and supportive therapy are required to prevent fatal complications like overwhelming sepsis or life threatening haemorrhages. We report two cases of aplastic anaemia having a different aetiology. The diagnostic work-up and the therapeutic management for each case are described below

Improving the Brain Delivery of Chemotherapeutic Drugs in Childhood Brain Tumors

The central nervous system (CNS) may be considered as a sanctuary site, protected from systemic chemotherapy by the meninges, the cerebrospinal fluid (CSF) and the blood-brain barrier (BBB). Consequently, parenchymal and CSF exposure of most antineoplastic agents following intravenous (IV) administration is lower than systemic exposure. In this review, we describe the different strategies developed to improve delivery of antineoplastic agents into the brain in primary and metastatic CNS tumors. We observed that several methods, such as BBB disruption (BBBD), intra-arterial (IA) and intracavitary chemotherapy, are not routinely used because of their invasiveness and potentially serious adverse effects. Conversely, intrathecal (IT) chemotherapy has been safely and widely practiced in the treatment of pediatric primary and metastatic tumors, replacing the neurotoxic cranial irradiation for the treatment of childhood lymphoma and acute lymphoblastic leukemia (ALL). IT chemotherapy may be achieved through lumbar puncture (LP) or across the Ommaya intraventricular reservoir, which are both described in this review. Additionally, we overviewed pharmacokinetics and toxic aspects of the main IT antineoplastic drugs employed for primary or metastatic childhood CNS tumors (such as methotrexate, cytosine arabinoside, hydrocortisone), with a concise focus on new and less used IT antineoplastic agents

Anthracycline-related cardiotoxicity: risk factors and therapeutic options in childhood cancers

Anthracyclines play an important role in chemotherapeutic regimens for a wide spectrum of childhood tumors, but they can cause cytotoxic damage to cardiac cells, especially in combination with radiotherapy. Furthermore, cardiotoxicity increases with the cumulative dose and may lead to congestive heart failure and cardiomyopathy. Other factors, including age, pre-existing cardiac disease, length of follow-up, gender, route of administration, concomitant exposure to some chemotherapeutic drugs, trisomy 21 and black race, play a role in increasing the risk of cardiac dysfunction. The prevention of anthracycline-induced cardiotoxicity is mandatory as children are expected to survive for decades after being cured of their cancer. The purpose of this work is to point out the major risk factors of cardiotoxicity in children and to summarize some strategies to limit or prevent this complication and to treat the development of acute heart failure

Clinical Impact of Nutritional Status and Sarcopenia in Pediatric Patients with Bone and Soft Tissue Sarcomas: A Pilot Retrospective Study (SarcoPed)

Background: We evaluated nutritional and sarcopenia status and their clinical impact in pediatric patients affected by bone and soft tissue sarcomas. Methods: Body mass index (BMI), prognostic nutritional index (PNI), and total psoas muscle area (tPMA) at diagnosis and after 12 months were analyzed. tPMA was measured from single cross-sectional computed tomography (CT) images at L4-L5. Age-specific and sex-specific tPMA Z-scores were retrieved from an online calculator. Results: A total of 21 patients were identified between February 2013 and December 2018. Twelve patients (57.1%) experienced sarcopenia at diagnosis, although not statistically associated with overall survival (OS) (p = 0.09). BMI Z-score, PNI, and tPMA Z-score significantly decreased between diagnosis and after 12 months of treatment (p < 0.05). Univariate analysis showed significant associations between poor OS and the presence of metastasis (p = 0.008), the absence of surgery (p = 0.005), PNI decrease (p = 0.027), and the reduction in tPMA > 25% (p = 0.042) over the 12 months. Conclusions: Sarcopenia affects more than half of the patients at diagnosis. Decreased PNI during 12 months of treatment has significant predictive value for OS. The role of tPMA derived from CT scan among pediatric patients with sarcoma should be investigated in further prospective and larger studies