Neonatal Jaundice with Splenomegaly: Not a Common Pick

Gotti, Giacomo; Marseglia, Antonio; Giacomo, Costantino De; Iascone, Maria; Sonzogni, Aurelio; D’Antiga, Lorenzo

doi:10.3109/15513815.2015.1130762

Cited by 8 publications

(8 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In line with our study, a previous study revealed that hepatosplenomegaly together with cholestatic liver disease were predominant symptoms in infants with NPC [ 8 ]. Here, we obtained two negative results from the enzymatic assay in a patient with NPC, which may be because of the normal function of sphingomyelinase.…”

Section: Discussionsupporting

confidence: 92%

Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

2022

View full text Add to dashboard Cite

Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann–Pick disease is categorized into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with Niemann–Pick type C, which certainly leads to neurologic deterioration. Case presentation We report a case of Niemann–Pick type C disease in a 3-year-old Iranian Azeri female patient who was hospitalized twice. The first time was at 1 month of age with symptoms of splenomegaly, jaundice, and elevated liver enzymes, and the second time was at around age 2 for loss of mental and physical abilities. The patient presented with failure to thrive. According to paraclinical examinations, mildly delayed myelination along with a nonspecific periventricular hypersignal intensity was seen. Interestingly, the patient’s Niemann–Pick type C enzymatic function was evaluated twice and was negative on both occasions, while she was positive for NPC1 and NPC2 gene examinations. Conclusions In this study, despite the enzymatic study being negative, Niemann–Pick type C disease was finally confirmed, revealing the importance of mutations in Niemann–Pick type C pathogenesis. Besides, peripheral neuropathy was diagnosed in this patient as a very rare symptom of Niemann–Pick type C.

show abstract

Section: Discussionsupporting

confidence: 92%

Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

2022

View full text Add to dashboard Cite

show abstract

“…Regarding treatment with ERT, there are very limited data available on its use in GD presenting with neonatal cholestasis. Unlike the index case where there was little improvement in liver function or enzymes, Schwartz (2009) and Gotti (2016) both observed improvements, though the case reported by Gotti (2016) continued to have worsening organomegaly and both cases eventually passed away from neurologic involvement. Hepatic enlargement in GD is due to accumulation of abnormal Gaucher cells or due to an inflammatory and/or infiltrative cell response in the liver 9‐11 .…”

Section: Discussionmentioning

confidence: 97%

Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review

Soudek

Siddiqui

Guerin

et al. 2020

Pediatric Transplantation

View full text Add to dashboard Cite

Background:We present a rare case of neonatal cholestasis in a female infant with Gaucher Disease (GD), who received liver transplantation. We review the relevant literature on similar disease presentations. Methods:A chart review of the index case was performed. PubMed and Medline databases were searched to identify other cases. Results:A 4-day-old female was referred with conjugated hyperbilirubinemia.Physical examination revealed icterus with hepatosplenomegaly and normal neurologic examination. The diagnosis of GD was confirmed through liver biopsy, low glucocerebrosidase enzyme activity, and two pathogenic mutations in GBA gene.Despite early initiation of ERT, the patient had worsening of her liver failure and underwent a left lateral segment liver transplant from a living donor at 7 months of age. She experienced improvement of her liver enzymes and coagulation, but passed away at 8 months due to the late onset of neurologic involvement. Nine other cases of GD presenting with neonatal cholestasis have been reported. Forty-four percent (4/9) of cases received ERT and none were considered for transplant. Overall, the literature suggests a poor prognosis with death reported in 77% (7/9) cases.

show abstract

“…NGS may not offer faster results, but it has the advantage of making the diagnosis and defining the genotypic signature of the condition (often corresponding to different predicted outcomes). It can be particularly useful to the pediatric hepatologist as part of a NGS panel for patients presenting early in life with cholestasis …”

Section: Usefulness Of Ngs In Pediatric Hepatology/liver Transplant Cmentioning

confidence: 99%

Next generation sequencing in pediatric hepatology and liver transplantation

Nicastro

D’Antiga

2018

Liver Transpl

View full text Add to dashboard Cite

Next generation sequencing (NGS) has revolutionized the analysis of human genetic variations, offering a highly cost-effective way to diagnose monogenic diseases (MDs). Because nearly half of the children with chronic liver disorders have a genetic cause and approximately 20% of pediatric liver transplantations are performed in children with MDs, NGS offers the opportunity to significantly improve the diagnostic yield in this field. Among the NGS strategies, the use of targeted gene panels has proven useful to rapidly and reliably confirm a clinical suspicion, whereas the whole exome sequencing (WES) with variants filtering has been adopted to assist the diagnostic workup in unclear clinical scenarios. WES is powerful but challenging because it detects a great number of variants of unknown significance that can be misinterpreted and lead to an incorrect diagnosis. In pediatric hepatology, targeted NGS can be very valuable to discriminate neonatal/infantile cholestatic disorders, disclose genetic causes of acute liver failure, and diagnose the subtype of inborn errors of metabolism presenting with a similar phenotype (such as glycogen storage disorders, mitochondrial cytopathies, or nonalcoholic fatty liver disease). The inclusion of NGS in diagnostic processes will lead to a paradigm shift in medicine, changing our approach to the patient as well as our understanding of factors affecting genotype-phenotype match. In this review, we discuss the opportunities and the challenges offered nowadays by NGS, and we propose a novel algorithm for cholestasis of infancy adopted in our center, including targeted NGS as a pivotal tool for the diagnosis of liver-based MDs. Liver Transplantation 24 282-293 2018 AASLD.

show abstract

Neonatal Jaundice with Splenomegaly: Not a Common Pick

Cited by 8 publications

References 7 publications

Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review

Next generation sequencing in pediatric hepatology and liver transplantation

Contact Info

Product

Resources

About