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renal neonatal autopsy

Amanda C Smith, Yoko Ito, Afsana Ahmed, Jeremy A Schwartzentruber, Chandree L Beaulieu, Erika Aberg, Jacek Majewski, Dennis E Bulman, Karina Horsting-Wethly, Diana Vermunt-de Koning, Richard J Rodenburg, Kym M Boycott, Lynette S Penney
Primary CoQ10 deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis of coenzyme Q10 (CoQ10 ). To date, mutations in nine proteins required for the biosynthesis of CoQ10 cause CoQ10 deficiency with varying clinical presentations. In 2009 the first patient with mutations in COQ9 was reported in an infant with a neonatal-onset, primary CoQ10 deficiency with multi-system disease. Here we describe four siblings with a previously undiagnosed lethal disorder characterized by oligohydramnios and intrauterine growth restriction, variable cardiomyopathy, anemia, and renal anomalies...
March 20, 2018: Journal of Inherited Metabolic Disease
Vani Bharani, G Vybhav Venkatesh, Uma Nahar Saikia, B R Thapa
Congenital hepatic fibrosis is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Typical presentation of congenital hepatic fibrosis is in the form of portal hypertension, in adolescents and young adults. We present an unusual case of neonatal cholestasis with rapid deterioration within first 4 months of life, who was diagnosed to have congenital hepatic fibrosis with polycystic kidney disease on autopsy.
July 15, 2017: Indian Pediatrics
Bogdan Malinescu, Eliza Martius, Ana Maria Pelin
Peroxisomal diseases are rare (1:50,000), genetically determined disorders (autosomal recessive), systemic, multiorgan illnesses with prominent involvement of the nervous system, caused either by the failure to form or to maintain the peroxisome, or by a defect in the function of a single or multiple peroxisomal enzymes. Peroxisomes contain approximately 50 enzymes which are responsible for many metabolic reactions, and play an important role in the oxidation of saturated very-long-chain fatty acids (VLCFA)...
October 2015: Forensic Science International
Moez Kdous, Oussema Khlifi, Marwene Brahem, Mohamed Khrouf, Sarah Amari, Monia Ferchiou, Fethi Zhioua
Antenatal renal vein thrombosis is a rarely described diagnostic finding, with variable consequences on kidney function. We present the case of an affected fetus, born at 35-week gestation, with intrauterine oligohydramnios and two small kidneys. A renal ultrasound carried out after birth confirmed the presence of prenatal abnormalities. Renal vein thrombosis was not diagnosed at the time. The baby died 20 days later of kidney failure, metabolic acidosis, and polypnea with severe hypotrophy. Autopsy revealed atrophied kidneys and adrenal glands...
2015: Case Reports in Obstetrics and Gynecology
Sophie Collardeau-Frachon, Alexandre Vasiljevic, Anne Jouvet, Raymonde Bouvier, Valérie Senée, Marc Nicolino
BACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple bone dysplasia, hepatic dysfunction, and growth retardation. All clinical manifestations result from gene mutations encoding pancreatic endoplasmic reticulum eIF2 α kinase (PERK), an endoplasmic reticulum transmembrane protein that plays a role in the unfolded protein response. Histological and ultrastructural lesions of bone and pancreas have been described in animal models and WRS patients...
November 2015: Pediatric Diabetes
C C Anunobi, K B Badmos, V I Onyekwelu, N Z Ikeri
Congenital mesoblastic nephroma (CMN) is a renal stromal neoplasm of infancy. It comprises 3-10% of all pediatric renal tumors. We report a case of CMN in a 30 week old premature female neonate seen at autopsy who was born to a 26-year-old woman by emergency cesarean section on account of polyhydramnios.
March 2014: Nigerian Journal of Clinical Practice
Prajakta A Gupte, Pradeep Vaideeswar, Bhuvaneshwari M Kandalkar
OBJECTIVE: Nephropathy is a known complication in cyanotic congenital heart disease (CCHD). This study was undertaken for an objective analysis of histopathological changes of cyanotic nephropathy at autopsy. DESIGN: Retrospective case records studied. SETTING: Tertiary care teaching hospital affiliated to medical college in Mumbai, India. PATIENTS AND METHODS: The renal histopathological findings of 50 consecutive autopsies in patients with CCHD were compared with 25 age-matched controls...
July 2014: Congenital Heart Disease
William C Kirby, Russell D'Sa, Stephen R Shapiro
Four critically ill neonates and two small children have undergone a total of nine postoperative cardiac catheterizations involving mechanical thrombolysis and early post-procedure abciximab for significant venous thrombus obstruction. Bacterial infection was associated in five patients and suspected in a sixth. These procedures achieved near normal venous flow pattern and subsequent long-term seemingly normal central veins in the three survivors (by ultrasound in two patients and by autopsy in the other who subsequently died of sepsis)...
May 2004: Journal of Invasive Cardiology
Noah Ditkofsky, Nori Bradley, Paul Jeon
A solitary adrenal gland spanning the midline has been alternatively described as "Horseshoe" or "Butterfly" and is a rare congenital abnormality almost exclusively associated with neonates. There have been 65 reported cases in fetuses and infants, based on ultrasound and autopsy findings. Horseshoe adrenal gland is associated with several congenital anomalies, such as asplenia (52 %), neural tube defects (37 %), renal abnormalities (29 %), and diaphragmatic defects (1 %). Recently, Feldman and colleagues [2] reported the first case of an adult male with horseshoe adrenal gland and posterior midline diaphragmatic anomaly found incidentally with CT imaging...
October 2013: Surgical and Radiologic Anatomy: SRA
Mary Jane Black, Megan R Sutherland, Lina Gubhaju, Alison L Kent, Jane E Dahlstrom, Lynette Moore
Preterm birth (birth prior to 37 completed weeks of gestation) may occur at a time when the infant kidney is very immature and nephrogenesis is often ongoing. In autopsied preterm human kidneys and in a baboon model of preterm birth it has been shown that nephrogenesis continues after preterm birth, with a significant increase in the number of glomerular generations and number of nephrons formed within the kidney after birth. Of concern, however, morphologically abnormal glomeruli (with a cystic Bowman's space) are often observed; the abnormal glomeruli are only located in the outer renal cortex, suggesting that it is the recently formed glomeruli (perhaps those formed in the extra-uterine environment) that are affected...
March 2013: Nephrology
Sekiko Taneda, Kazuho Honda, Asuka Aoki, Kosaku Nitta, Takashi Tamura, Yoko Yoshioka, Hideaki Oda
Autosomal recessive polycystic kidney disease (ARPKD) is caused by genetic mutations of the gene encoding fibrocystin, and is characterized by the collecting duct cysts and congenital hepatic fibrosis. We report an autopsy-proven case of ARPKD in a 77-year-old male who presented with rapidly progressive renal and liver dysfunction. He had refused hemodialysis, and died 4 months later. At autopsy, both kidneys were enlarged with numerous small cysts throughout the cortex, which were revealed immunohistochemically to be the collecting ducts...
December 2012: Pathology International
Vichan Peonim, Kanchana Sujirachato, Jitta Udnoon, Ubon Chudoung, Sompong Wongwichai
A 38-week-gestational age male neonatal death from a 27-year-old-mother was reported. The autopsy found multiple congenital anomalies such as scoliosis of thoracic spine with 13 pairs of ribs, anal atresia, bilateral renal agenesis, and clubfeet. These anomalies were diagnosed VACTERL--association that must include at least three out of six principal anomalies of previously mentioned, e.g., (1) V--vertebral defects, (2) A--anal atresia, (3) C--cardiac anomalies, (4) TE--tracheo-esophageal fistula, (5) R--renal anomalies, and (6) L--limb abnormalities...
October 2012: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
Sophie Collardeau-Frachon, Sophie Heissat, Raymonde Bouvier, Monique Fabre, Julien Baruteau, Pierre Broue, Marie-Pierre Cordier, Dominique Debray, Hanna Debiec, Pierre Ronco, Vincent Guigonis
Neonatal hemochromatosis is a rare disease that causes fetal loss and neonatal death in the 1st weeks of life and is one of the most common causes of liver failure in the neonate. The diagnosis is mostly made retrospectively, based on histopathologic features of severe liver fibrosis associated with hepatic and extrahepatic siderosis. Several etiologies may underlie this phenotype, including a recently hypothesized gestational alloimmune disease. Fifty-one cases of liver failure with intrahepatic siderosis in fetuses and neonates were analyzed retrospectively...
November 2012: Pediatric and Developmental Pathology
G Giordano, G Fellegara, F Brigati, D Gramellini, C Magnani
BACKGROUND AND AIM: This 6-year retrospective study reports 14 cases of renal malformations, observed in foetuses and newborns. The objective was to evaluate the usefulness of post-mortem examination in cases of renal malformations by a comparison of the post-mortem findings with clinical diagnosis. METHODS: This study included laboratory tests, ultrasonography, karyotype and detailed pathological evaluation of the foetuses and newborns by external, macroscopic, microscopic and placental examination...
December 2011: Acta Bio-medica: Atenei Parmensis
Rana K Sherwani, Amit Kumar, Khaliqur Rahman, Tamkin Rabbani
Autosomal recessive polycystic kidney disease (ARPKD) is a common inheritable cystic renal disease that has a profound effect on the growing fetus and on subsequent pregnancies, being fatal in 30% to 50% cases in the neonatal period. Prenatal imaging studies are only suggestive of the disorder and it is evident only from the second trimester onwards. Prenatal molecular linkage analysis can identify the disorder, but have a prerequisite of previous DNA analysis of parents and one sibling. ARPKD can be accurately diagnosed on characteristic histopathological features if an autopsy is performed in cases of infant death where the prenatal imaging studies and clinical findings are suggestive of the disease...
2010: BMJ Case Reports
Prakash M Kabbur, Victor Herson, Leslie Wolkoff
Hypertension is an unusual finding in premature infants and warrants an extensive workup. Well-known causes of hypertension include endocrine, renal and cardiac anomalies. Coarctation of the thoracic aorta, a well-recognized cardiac anomaly leading to hypertension can manifest at various ages including the newborn period. In contrast, midaortic syndrome (MAS), also known as midaortic dysplastic syndrome, is a rare clinical syndrome involving hypoplasia of the abdominal aorta (AA) 1 with varying degrees of narrowing of the visceral branches, often presenting as intractable hypertension...
February 2012: Connecticut Medicine
C Panduranga, Ranjit Kangle, Rajshree Badami, Prakash V Patil
Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy.
January 2012: Journal of Neurosciences in Rural Practice
Annasu Wessels, Helen C Wainwright, Peter Beighton
We have documented the clinical, radiologic, and autopsy findings of 2 fetuses with atelosteogenesis type I, aged 22 and 17 weeks. This rare autosomal dominant lethal skeletal dysplasia is caused by mutation in the FNLB gene. The 17-week-old fetus had some features of atelosteogenesis type II, notably "hitchhiker thumbs," a cleft palate, and midfacial flattening. The histologic demonstration of giant cells in the growth plate cartilage confirmed the diagnosis of atelosteogenesis type I in both fetuses, thereby facilitating accurate prediction of recurrence risks for the parents of the affected fetuses...
November 2011: Pediatric and Developmental Pathology
Megan R Sutherland, Lina Gubhaju, Lynette Moore, Alison L Kent, Jane E Dahlstrom, Rosemary S C Horne, Wendy E Hoy, John F Bertram, M Jane Black
Nephrogenesis is ongoing at the time of birth for the majority of preterm infants, but whether postnatal renal development follows a similar trajectory to normal in utero growth is unknown. Here, we examined tissue collected at autopsy from 28 kidneys from preterm neonates, whose postnatal survival ranged from 2 to 68 days, including 6 that had restricted intrauterine growth. In addition, we examined kidneys from 32 still-born gestational controls. We assessed the width of the nephrogenic zone, number of glomerular generations, cross-sectional area of the renal corpuscle, and glomerular maturity and morphology...
July 2011: Journal of the American Society of Nephrology: JASN
Flore Zufferey, Danielle Martinet, Maria-Chiara Osterheld, Florence Niel-Bütschi, Eric Giannoni, Nathalie Besuchet Schmutz, Zhilian Xia, Jacques S Beckmann, Charles Shaw-Smith, Pawel Stankiewicz, Claire Langston, Florence Fellmann
OBJECTIVE: Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn and multiple congenital malformations. DESIGN: Descriptive case report. SETTING: Genetic department and neonatal intensive care unit of a tertiary care children's hospital. INTERVENTIONS: None. PATIENT: We report the case of a preterm male infant, born at 26 wks of gestation...
November 2011: Pediatric Critical Care Medicine
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