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Inborn Errors of Metabolism
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Surekha Pendyal, Areeg Hassan El-Gharbawy
Newborn infants appear normal at birth and may be asymptomatic in the first 24–48 hours but then become lethargic, irritable, feed poorly, and vomit. These symptoms can progress rapidly resulting in a hyperammonemic crisis, seizures, coma, and death if not treated immediately. Hyperammonemia is the hallmark of UCDs with peak ammonia concentrations >500 μmol/L in most neonatal patients at presentation. Individuals with partial enzyme activity may not be diagnosed with a UCD until faced with a high protein load, growth spurt, puberty, menarche, a catabolizing illness, or surgery. Infants and children diagnosed late can present with malnutrition, chronic neurological symptoms, and episodic encephalopathy with lethargy, ataxia, and seizures. Adolescents and adults can present with chronic neurological or psychiatric problems, episodes of disorientation, or lethargy. Late-onset diagnosis is particularly common in female carriers of OTC deficiency.
Introduction to hyperammonemia and disorders of the urea cycle
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Long-term morbidity remains substantial in UCD patients. It could be shown that 50% of patients with UCDs suffer from intellectual disability [29]. These data were confirmed by a more recent study including 103 subjects with neonatal-onset UCDs [30]. However, uncertainty with regard to the impact of peak-blood ammonia level on neurocognitive outcome in UCDs exists. While Bachmann suggested that neurocognitive outcome does essentially depend on the initial peak-blood ammonia level [31], surprisingly Ah Mew and coworkers could not correlate the peak-blood ammonia level with poor cognitive outcome [30].
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
Older children with milder disease present with variable symptoms. These can range from episodic nausea, vomiting and behavioural changes to encephalopathy. There may be a history of protein intolerance. Clinical examination is often without diagnostic clues other than possible hepatomegaly. The most common urea cycle disorder (UCD) is ornithine transcarbamylase deficiency (OTC). This is the only x-linked inherited UCD. Affected males often die with overwhelming hyperammonaemia in the newborn period. Female carriers, although usually much less severely affected, can also present with life-threatening hyperammonaemic episodes.
Intrapericardial pneumonectomy for unicentric hilar castleman disease
Published in Acta Chirurgica Belgica, 2021
Murat Kara, Berker Ozkan, Melike Ulker, Deniz Tugcu, Gulcin Yegen
Clinical and radiological findings are not specific to Castleman disease, which made the diagnosis difficult as in our case. A unicentric localized form is a slow-growing, asymptomatic mass lesion; however, a multicentric systemic form may present with generalized lymphadenopathy, fever, fatigue, weight loss, hepatosplenomegaly, and hypergammaglobulinemia [3]. Unicentric Castleman disease manifests as either a solitary, well-circumscribed mediastinal mass or an infiltrative mass with clear contrast enhancement in addition to associated lymphadenopathy on computerized tomography or magnetic resonance imaging. On the other hand, multicentric Castleman disease manifests with diffuse mediastinal lymphadenopathy. All lesions are heterogeneous and have increased signal intensity on T1- and T2-weighted images in the magnetic resonance images [4]. Similarly, PET/CT is not a diagnostic approach because it cannot be adequately differentiated from a malignant tumor. Thus, Castleman disease with intrapulmonary involvement may even mimic lung cancer with false-positive mediastinal lymphadenopathies. A differential diagnosis should include lung tumors, such as carcinoma, carcinoid tumor, hamartoma, lymphoma, and lymphadenopathy. The diagnosis can only be established with a histopathologic examination of the resected lymph nodes. A thoracotomy may also become inevitable for the diagnosis and treatment as in our case.
Rare finding in peripheral nerve surgery: an unicentric Castleman disease presenting as median nerve tumour
Published in Case Reports in Plastic Surgery and Hand Surgery, 2018
Anne Carolus, Roland Schroers, Iris Tischoff, Kirsten Schmieder, Christopher Brenke
According to the literature unicentric Castleman disease has a good prognosis concerning the overall survival if treated by either complete surgical removal or a combination of surgery and radiation [7]. In this respect we think that an extirpation is superior to a sole biopsy in such a case. An even more radical approach with resection of a part of the nerve would be justified in cases where a rapid growth of the tumour is likely - in example as it is in MPNST. But in this case, being surprised by a complete new histological entity, there is a lack of long time experiences. We decided that peripheral nerve function preservation had priority, especially since a major nerve of the upper extremity was involved. Observation will show if this makes sense.