Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Jul 26, 2022; 10(21): 7397-7408
Published online Jul 26, 2022. doi: 10.12998/wjcc.v10.i21.7397
Table 1 Blood test results
Patient
Case 1 (younger sister)
Case 2 (elder sister)
Age in mo11.53.55.61.41.83.9
Complete blood count White blood cell (4-10 × 109/L)24.421.827.032.220.923.98.8
Lymphocyte (45%-75%)50.644.565.53237.825.547.8
Neutrophil (20%-50%)3542.828.562.975.072.843.8
Red blood cell (4.0-5.5 × 1012/L)4.33.8-4.04.1-3.0
Hemoglobin (110-160 g/L)14312410011012510884
Platelet count (100-300 × 109/L)506509303308418357464
C-reactive protein (< 8 mg/L)< 8< 810.650151462
Serum biochemistry Albumin (35-55 g/L)37-39.53941.835.838.7
Globulin (20-30 g/L)20.7-20.42020.426.419.5
Alanine aminotransferase (0-40 IU/L)14-8151175629
Aspartate aminotransferase (0-40 IU/L)46-154935312149
Total bilirubin (5.1-17.1 μmol/L)8.5--4.8-5.03.0
Direct bilirubin (0-6 μmol/L)2.4--0.2-1.10.8
γ-Glutamyl transpeptidase (7-50 IU/L)60--14--16
Total bile acid (0-10 μmol/L)9.6--10.2---
Alkaline phosphatase (42-383 IU/L)265--259--113
Creatine kinase (25-200 IU/L)142-17514014181372
Creatine kinase-MB (< 25 IU/L)73-69383430224
α-Hydroxybutyrate dehydrogenase (72-182 IU/L)452-342297--274
Lactate dehydrogenase (180-430 IU/L)556-500330-922296
Glucose (3.9-5.8 mmol/L)4.3-4.9----
Creatinine (31-52 μmol/L)27-23.924191517
Urea (2.5-6.5 mmol/L)5.0-6.67.12.31.43.6
Uric acid (90-420 μmol/L)168-338301-281167
Total cholesterol (3.1-5.2 mmol/L)5.0----4.44.3
Triglyceride (0.6-1.7)1.0----2.12.1
Blood coagulation profiles Activated partial thromboplastin time (28.0-44.5 s)35.8--37.1---
D-dimer (0-0.3 mg/L)0.54--1.51---
Fibrinogen (2-4 g/L)3.43--3.26---
Fibrinogen degradation products (0-5 μg/mL)1.16--4.4---
Thrombin time (14-21 s)18.5--17.9---
International normalized ratio (0.8-1.2)0.99--1.37---
Prothrombin time (12.0-14.8 s)13--17---
Prothrombin time activity (80%-100%)103--62---
Immune function profiles IgG (3.70–8.30 g/L)-7.6--12.3113.91-
IgM (0.33–1.25 g/L)-0.52--0.630.61-
IgA (0.14–0.50 g/L)-0.05--0.100.12-
Complement 3 (0.67-1.76 g/L)----0.450.49-
Complement 4 (0.10-0.40 g/L)----< 0.060.10-
Total T cells (CD3) (53%-84%)----41.138.9-
Helper T cells (CD4) (35%-64%)----34.729.8-
Cytotoxic T cells (CD8) (12%-28%)----15.910.9-
Natural killer cells (CD16 + CD56) (4%-18%)----2.39.9-
B cells (CD19) (6%-32%)----36.343.6-
Procalcitonin (< 0.05 ng/mL)---0.60.20.2-
Interleukin-6 (< 7 pg/mL)--14.8---
1Values after IVIG therapy.
-: Not available. Reference ranges are presented in parentheses.
Table 2 Clinical, genetic, and glycomic features of all reported patients with mannosyl-oligosaccharide glucosidase deficiency[4]
Patients in the order of publication date
1[4]
2/31[5]
4[6]
52[7] and present report
62[7] and present report
7[8]
8[9]
9[10]
103[10]
113[10]
12[11]
SexFemaleMale/FemaleMaleFemale (younger)Female (elder)FemaleMaleMaleFemaleMaleFemale
Age of onsetNeonatalEarly in lifeNeonatalNeonatalNeonatalNeonatalNeonatalNeonatalNeonatalNeonatalNeonatal
Neurologic symptoms
Microcephaly+++++ND+++++
SeizuresEIEE+ND+NDInfantile spasm+EIEEEIEEEIEE+
Psychomotor disturbanceNDProfoundNDProfoundProfound+NDProfoundProfoundProfoundProfound
Hypotonia+++--++++++
Cerebral abnormality-Small corpus callosum, optic-nerve atrophy-NDFrontal gyrus stenosis, high T1W1 signal in anterior pituitary, and thin corpus callosumThin corpus callosum, wide cerebral sulcusAgenesis of corpus callosum, septo-optic dysplasiaLoss of white matter volume, delayed myelinationLoss of white matter volumeLoss of white matter volumeDelayed myelination, cortical and subcortical atrophy
Dysmorphic features+ (ND)+ (ND)
Broad nose++++++++-
High-arched palate+++NDND+++ND
Retrognathia++++ND++++
Short palpebral fissure++++++++-
Enlarged ears+ND++ND+++ND
Overlapping finger/toe+++NDND+++ND
Arthrogryposis++NDNDNDND+++ND
Hypertrichosis++++ND+++++
Hypoplastic genitalia++NDAbnormal fat distribution--Hypogonadism+NDNDND
Cardiac involvement--ASD, LVHASD, PFO, heart failure, and pericardial effusionPFO, heart failurePFO, ASDDilated cardiomyopathy+--ND
Elevated AST/ALT (IU/L)+(80/34)NDND+ (46-154/14-81)+ (49-121/17-56)++ (30-1547/9- 1132)+ (35-144/23-83)+ (36-226/50.5-164)ND
CirrhosisNDNDNDNDNDNDND-++ND
Hepatomegaly+ND++++++++ND
HypogammaglobulimiaLow IgALow IgG, IgA, IgMLow IgA, IgMLow IgALow IgA, Normal IgG and IgM after IVIGLow IgG, IgA, IgMLow IgALow IgA Low IgALow IgA and IgGLow IgG2
Recurrent infections+-+++++++++
Endocrine abnormalityNDNDSIADHNDHypoglycemia, electrolyte disturbance, and central hypothyroidismNDNDHyponatremiaNDNDHypoglycemia; elevated cortisol, progesterone, and androstenedione levels
Edema+ND++++ND+NDND-
Hearing impairmentFlat with ABRSensorineural hearing lossAbnormal ABRHearing impairmentND-NDNo wave with ABROnly I wave with ABROnly I wave with ABRHypoacusia
EEGSuppression burst patternNDNDNDNDAtypical hypsarrhythmiaNDSuppression burst patternSuppression burst patternSuppression burst patternHypsarrhythmia
Isoelectric focusing of transferrinNormalNDIncreased trisialotransferrin NDNDNormalNormalNormalNormalNormalNormal
Urinary oligosaccharideAbnormalNDNDNDNDNDAbnormalAbnormalNDNDND
IgG or serum glycan analysisNDIncreased N2H10 in IgG; Increased N2H10, N2H11 and N2H12 in serumNDIncreased N2H10 and N2H5 in IgGNDNDNDNDNDNDND
MOGS gene mutationsp.Arg486Thr and p.Phe652Leup.Ala22Glu, p.Arg110His, and p.Gln124Terp.Thr802Ileand p.Arg535Terp.Asp414Leufs*17, p.Gly182Arg, and p.Asp566Glup.Asp414Leufs*17, p.Gly182Arg, and p.Asp566Glup.Arg565Gln and p.Arg540Hisp.Arg495Ter and p.Gly752Aspp.Gln505del and p.Arg495TerNDp.Gln505del and p.Arg535Terp.Pro513Ser and p.Gly824Asp
PrognosisDied (74 d)Alive (11 yr/6 yr)Died (4 mo)Died (9 mo)Died (10 mo)Alive (2 yr 1 mo)Died (1 yr)Alive (13 yr)DiedDiedAlive (19 yr)
1Siblings.
2Siblings.
3Siblings.
4Updated on the basis of Anzai et al[10].
ASD: Atrial septal defect; EEG: Electroencephalogram; EIEE: Early infantile epileptic encephalopathy; LVH: Left ventricular hypertrophy; N2H5: Man5GlcNAc2; N2H10: Glc3Man7GlcNAc2; N2H11: Glc3Man8GlcNAc2; N2H12: Glc3Man9GlcNAc2; ND: No data available or not determined; PFO: Patent foramen ovale; SIADH: Syndrome of inappropriate secretion of antidiuretic hormone.