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Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis
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
Patients with neonatal ALD usually have no clinical evidence of adrenal insufficiency. Electrolyte concentrations are normal. One patient had a low level of cortisol in the serum, but the cortisol response to adrenocorticotropin (ACTH) was normal. Most have had impaired cortisol responses to ACTH. One patient developed hypoglycemia in response to fasting [9]. Very small adrenals have been observed at autopsy [1, 3]. Histologic examination of adrenals has revealed extensive cortical atrophy with nodules of ballooned cells that stained for lipid with Oil Red O. Electron microscopy showed lamellar, needle-like lipid inclusions. It was this similarity to X-linked ALD that led to the naming of this disease. This adrenal pathology is also seen in Zellweger syndrome [37]. ACTH was demonstrated immunohistochemically in the pituitary, indicating the adrenal changes to be primary [1].
Non-primary CMV infection not always innocent. A case-report and literature review
Published in Acta Clinica Belgica, 2022
Lieselot Arnouts, K. Van Mechelen, S. Laroche, M. Meuwissen, A. Boudewyns, M. Martens, L. Mahieu
Additional examinations were performed to exclude other contributing factors. An important differential consideration was Zellweger syndrome, based on the facial dysmorphisms with large anterior fontanel, hepatomegaly, hypotonia and hearing loss. An ultrasound of the kidneys was normal. Echocardiography showed an atrial septum defect type II and mild pulmonal hypertension. A metabolic screening, including very long chain fatty acids, urinary organic acids and amino acids and plasma isoelectric focusing of sialotransferrins was normal. Lysosomal storage diseases were excluded. Genome-wide analysis with whole exome sequencing (trio-analysis), using DNA extracted from blood lymphocytes from the patient and both parents, was normal. Over the next weeks the liver tests and cholestatic jaundice gradually improved and the facial dysmorphisms became less obvious. ABR was repeated after 1 and 6 months and showed stable hearing thresholds. At the age of 4 months, a central motor disorder with axial hypotonia and poor head control was suspected, for which physiotherapy was started.
Neonatal outcomes and congenital anomalies in pregnancies affected by hypothyroidism
Published in Annals of Medicine, 2021
Zareen Kiran, Aisha Sheikh, Khadija Nuzhat Humayun, Najmul Islam
Most studies reported major congenital anomalies as a perinatal outcome of hypothyroid mothers but did not describe the details of the anomalies [18]. Among the significant congenital anomalies, our cohort had more cardiovascular defects (CVD) with highest prevalence of Patent Ductus Arteriosus (PDA) (1.2%) followed by Ventricular Septal Defect (VSD) (1.1%). Literature is limited regarding neonates of hypothyroid mothers without congenital hypothyroidism developing cardiovascular defects. A study from India reported higher CVD than other anomalies amongst congenital hypothyroid neonates [42], which is similar to a Mexican study with a larger sample size and with PDA as the second most common CVD [43]. Urogenital tract was the second clinically important organ system involved in our neonates. A study from Iran has reported significant association of presence of urogenital anomalies with congenital hypothyroidism (OR 2.04; 95%CI: 1.1–3.6; p ≤0.05) [38]. We also observed that births to women diagnosed during pregnancy are 2.3 times more likely to have a congenital anomaly or condition. We have no local data to compare this effect, however, this subject is also rarely explored in literature. One of our neonates also had Zellweger syndrome and the other had Edward syndrome, which have never been reported before. Although there are number of miscellaneous cutaneous (most common Mongolian spots) and musculoskeletal conditions present in our cohort of neonates, we need to identify their significance only after conducting a case–control study.
Putative adjunct therapies to target mitochondrial dysfunction and oxidative stress in phenylketonuria, lysosomal storage disorders and peroxisomal disorders
Published in Expert Opinion on Orphan Drugs, 2020
Nadia Turton, Tricia Rutherford, Dick Thijssen, Iain P Hargreaves
Peroxisomes are membrane-bound organelles which contain around 50 different enzymes to fulfil their critical roles in a range of metabolic processes including catabolism of polyamines, prostaglandins, purines and eicosanoids, ether phospholipid biosynthesis, fatty acid oxidation, peroxide and ROS metabolism, glyoxylate clearing, and possibly the biosynthesis of isoprenoids [64]. Peroxisomal disorders are heterogeneous metabolic diseases that result from either mutations in genes that encode peroxisomal enzymes (Refsum disease and adrenoleucodystrophy: ALD) [65,66] or occur as the result of defects in peroxisome biogenesis (Zellweger syndrome spectrum disorders and Rhizomelic chondrodysplasia punctate: RCDP) [67]. Peroxisome biogenesis disorders encompass two phenotypic groups: 1. Zellweger syndrome, neonatal ALD, and infantile Refsum disease, which all belong to the Zellweger syndrome spectrum of diseases, and 2. RCDP1 [67].