A Patient with Sickle Cell Disease and Beta-Mannosidosis: A Case Report

Case Report

Austin J Clin Case Rep. 2020; 7(1): 1164.

A Patient with Sickle Cell Disease and Beta-Mannosidosis: A Case Report

Almadani H, Namnqani R* and Kurdi H

Department of Pediatrics, King Fahad Armed Forces Hospital, Jeddah, Kingdom of Saudi Arabia

*Corresponding author: Namnqani R, Department of Pediatrics, King Fahad Armed Forces Hospital, Jeddah, Kingdom of Saudi Arabia

Received: April 26, 2020; Accepted: June 23, 2020; Published: June 30, 2020

Abstract

Sickle Cell Disease (SCD) is one of the global health problems, with estimates of approximately 300,000 new cases per year diagnosed with SCD worldwide. It is defined as a homozygous status of the sickle hemoglobin (HbS) gene which results in substitution of the amino acid valine to glutamic acid at the 6th position of the B-globin chain. B-mannosidosis is a rare glycoprotein lysosomal storage disease inherited as an autosomal recessive pattern caused by a deficient activity of beta manosidase enzyme. We report here Eight years old male patient diagnosed with Sickle Cell Disease and Beta-mannosidosis, to our knowledge this is the first case to report a patient with SCD and B-mannosidosis.

Keywords: Sickle Cell Disease; Beta mannosidosis; Hypersplenism; Acute Chest Syndrome; Splenic Sequestration

Introduction

Sickle Cell Disease (SCD) is one of the global health problems, with estimates of approximately 300,000 new cases per year diagnosed with SCD worldwide. It is defined as a homozygous status of the sickle hemoglobin (HbS) gene which results in substitution of the amino acid valine to glutamic acid at the 6th position of the B-globin chain [1,2]. B-mannosidosis is a rare glycoprotein lysosomal storage disease inherited as an autosomal recessive manner caused by a deficient activity of beta manosidase enzyme [3]. Acute Chest Syndrome (ACS) is the leading cause of death in SCD patient and the 2nd most common complication of Sickle Cell Disease, after vasoocclusive crisis [4]. Splenic sequestration and hypersplenism is a known complication as well of SCD [5]. We report a case of SCD with B-mannosidosis who is having a recurrent ACS and hypersplenism with acute splenic sequestration.

Case Presentation

An 8 years old boy, a product of a full term, Spontaneous Vaginal Delivery (SVD), the second child to consanguineous parents. The patient presented at age of 4 months with pallor and shortness of breath with a complete blood count hemoglobin level of 7.8mg/ dl with a sickle cell screen positive, and diagnosed as a sickle cell disease based on hemoglobin electrophoresis (HbS: 34.7% and HbF: 63.7% with no detectable HbA) which was repeated at age of one year and confirmed the diagnosis of SCD with alpha-Thalassemia trait, X-ray chest showed cardiomegaly and Echo was done and results were as dilated left ventricle and atrium with moderate mitral regurgitation and the left ventricle function of FS 17.2% and labelled as having cardiomyopathy. At age of 3 years the patient had global developmental delay, growth parameters were below 3rd centile for height and weight, he had hepatosplenomegaly, speech retardation with hearing loss and recurrent otitis media requiring later bilateral myringotomy, T tube insertion and a hearing aid. He had coarse facial features (gargoyle-like features) as frontal bossing, flat nasal bridge, large tongue with thick lips and gapped teeth, gibbus malformation with skeletal deformities (Figure 1-4) (Table 2).

At 4 years of age he was diagnosed as Bronchial Asthma, Allergic Rhinitis, myopic astigmatism and Attention Deficit Hyperactive Disease (ADHD) with a lower IQ of 70 at age of 7 years. He underwent splenectomy at age of 5 years. The patient was investigated for a lysosomal storage disorder, urine Glycosamino glycan (GAG) was negative for the patient, normal blood Tandem mass spectrometry, and chromosomal analysis of 46, XY. Whole Exome Sequence (WES) detected a homozygous variant of exon 6 of the MANBA gene mutation C.704T>G (p.lle235Arg) and both parents are with a heterozygous status. Enzymatic assay of manosidase activity in serum (Table 1).