Case 23-1997

Introduction. Lysosomal storage disorders (LSDs) are rare diseases with more than 50 different entities described today. The spectrum of phenotypes varies from severe to lethal and early-onset disease to mild and late onset. Recognition of the clinical signs and diagnostic workup is challenging and requires expertise. Diagnosis relies on finding abnormal metabolites in urine and serum followed by further enzymatic or molecular analysis. Routine histological examination of the foetal and placental tissues frequently shows vacuolisation, providing a readily available important clue to the diagnosis. Case Report. A third child of consanguineal parents showed several dysmorphic features and a complicated neonatal period with eventual demise in the early postneonatal period due to respiratory failure. An LSD was suspected based on clinical presentation, urine metabolite excretion, skeletal radiograph, and vacuolisation in lymphocytes and placental tissues on, respectively, blood smear and routine histological examination. Homozygosity mapping favoured galactosialidosis. The diagnosis was confirmed by massive parallel sequencing, revealing a single nucleotide variation in the CTSA gene (c.265A>C, p.Ser89Arg). Discussion. Histological placental examination may be either the first clue or complimentary evidence in recognizing LSDs. It is important to recognize these clues as it may prompt further investigation and facilitate earlier recognition of the disease.

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“…Our findings of placental histology in galactosialidosis were similar to ones previously reported in the literature [5].…”

Section: Discussionsupporting

confidence: 92%

Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis

Libbrecht

Eyskens

Declercq

et al. 2020

Case Reports in Pathology

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“…Hydrops is considered immune mediated if there is evidence of fetal‐maternal blood group incompatibility. Before Rh immune globulin therapy, immune‐mediated hydrops in Rh‐negative mothers was the most common type of fetal hydrops (2). Our patient was discharged from the nursery with mild immune mediated hydrops and a diagnosis of Rh incompatibility.…”

Section: Discussionmentioning

confidence: 99%