Carnitine palmitoyl transferase I deficiency
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
Hypoketotic hypoglycemia; acute episodes leading to convulsions and coma; hepatomegaly; hepatic failure; adult onset myopathy; elevated levels of carnitine and carnitine phosphokinase in blood, and deficiency of carnitine palmitoyl transferase (CPT) I are the major phenotypic expression. CPT I was first described in 1980 by Bougneres et al., in a patient who developed hypoketotic hypoglycemia and morning seizures at eight months of age. They referred to the disorder as deficiency of hepatic carnitine acyl transferase, or palmitoyl transferase, to distinguish it from the deficiency of muscular CPT, in which there is a very different phenotype of muscle pain and rhabdomyolysis, usually observed in adults after exercise. This disorder usually presents in infancy, often in the second six months, with acute hypoketotic hypoglycemia during an episode of fasting brought on by an intercurrent, usually viral illness, or gastroenteritis.
Abdominal swelling
Sherif Gonem, Ian Pavord in Diagnosis in Acute Medicine, 2017
Generalised swelling of the abdomen is most often caused by ascites, bowel dilatation, pregnancy or obesity. Bladder distension, massive organomegaly and large intra-abdominal cysts or tumours may also result in noticeable abdominal distension. The causes of ascites may be divided into three broad categories: portal hypertension; peritoneal disease; and miscellaneous causes. The miscellaneous category is a diverse group of conditions, so the serum-ascites albumin gradient may be either low or high. The serum ascites albumin gradient, which is the difference between the serum and ascitic fluid albumin concentrations, is useful in the diagnosis of ascites. Spontaneous bacterial peritonitis must be ruled in or out in any acutely unwell patient with ascites. Hepatomegaly may be caused by vascular congestion, whereas liver cirrhosis generally results in a shrunken liver. Signs of chronic liver disease include jaundice, spider naevi, gynaecomastia, palmar erythema, clubbing and hepatic flap.
Blastic Plasmacytoid Dendritic Cell Neoplasms (BPDCN)
Dongyou Liu in Tumors and Cancers, 2017
This chapter presents a state of the art summary of blastic plasmacytoid dendritic cell neoplasms (BPDCN) in relation to its biology, epidemiology, disease mechanisms, clinical signs, diagnosis, treatment and prognosis. The cutaneous tropism of BPDCN tumor cells is highlighted by their expression of antigens that favor skin migration and by their expression of chemokine binding cognate receptors. BPDCN is a rare, aggressive hematologic malignancy, accounting for 0.44% of all hematological malignancies, lesser than 1% of acute leukemias, 0.7% of cutaneous lymphomas, and 6.3% of the NK-cell lineage malignancies. Risk factors for BPDCN include viral infection, prior chemotherapy, and other myeloid neoplasms. The BPDCN leukemic variant is characterized by an elevated white blood cell count, circulating blasts, and massive bone marrow infiltration along with a localized or generalized lymphadenopathy, splenomegaly, hepatomegaly, multiple skin lesions, anemia, and thrombocytopenia. Patients suspected of BPDCN should undergo blood cell counts and a skin/bone marrow biopsy to demonstrate characteristic cell morphology and specific immunophenotype.
Progression of liver disease in children and adults with lysosomal acid lipase deficiency
Published in Current Medical Research and Opinion, 2017
Barbara K. Burton, Nancy Silliman, Sachin Marulkar
Background and objective: Manifestations of the autosomal recessive disorder lysosomal acid lipase deficiency (LAL-D) include hepatomegaly, elevated serum liver enzymes, and progressive liver disease. We report an analysis of time to progression from first clinical manifestation to first documentation of hepatic fibrosis, cirrhosis, or liver transplantation from an observational study of pediatric and adult patients with LAL-D (clinical trial registration: NCT01528917). Methods: Data were analyzed from 31 patients with available biopsy data and 1 patient without biopsy data who had undergone liver transplantation. Time to first documentation of fibrosis, cirrhosis, or liver transplantation following the first LAL-D clinical manifestation was estimated using Kaplan–Meier analysis. Results: The median time to an event was 3.1 years. Conclusions: These findings illustrate the progression of liver damage in LAL-D and the elevated risk for liver transplantation among children and adults with LAL-D.
Vertebral compression fractures as the initial presentation of AL amyloidosis: case series and review of literature
Published in Amyloid, 2015
Shayna Sarosiek, David C. Seldin, Lawreen H. Connors, Brian Spencer, Akira Murakami, Carl O'Hara, Vaishali Sanchorawala
The clinical presentation of AL amyloidosis is highly variable. In this series, we describe five cases of AL amyloidosis with vertebral compression fractures as initial presentation. All five patients had evidence of bone marrow replacement on magnetic resonance imaging and bone marrow biopsies demonstrating diffuse interstitial amyloid deposition. Hepatomegaly and elevated liver enzymes, consistent with liver involvement with amyloidosis, were also seen in each case. All five patients responded well to anti-plasma cell chemotherapy, with normalization of serum free light chain levels, reduction in alkaline phosphatase and improvement in pain and functional status. Although rare, AL amyloidosis should be considered in the differential diagnosis of selected patients with spontaneous vertebral compression fractures. Moreover, there seems to be an association of vertebral compression fractures with liver involvement in AL amyloidosis.
Dengue in children: a systematic review of clinical and laboratory factors associated with severity
Published in Expert Review of Anti-infective Therapy, 2015
Mayumi Duarte Wakimoto, Luiz Antonio Bastos Camacho, Lusiele Guaraldo, Luana Santana Damasceno, Patrícia Brasil
Dengue is a potentially life-threatening illness, and children are at higher risk of severity. This review aimed to systematize the identified clinical and laboratory parameters associated with severe dengue in children, as monitoring these signs and fluid-replacement therapy are actually the cornerstones of dengue treatment. Of the 527 studies initially reviewed, 21 were selected as follows: three cohort studies, three case-control studies, 14 cross-sectional studies and one not defined. Eighteen studies were carried out in Asia and three in the Americas. Hepatomegaly, lethargy, abdominal pain, bleeding, hemoconcentration and thrombocytopenia, all referenced as warning signs in the WHO 2009 Guidelines, were the clinical and laboratory parameters independently associated with severity in more than one study. The recognition of these known warning signs associated to severe dengue disease underlines the usefulness of the WHO 2009 classification.
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