Case Report

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

Table 1

Summary of the previous five hospital admissions of the patient.

AdmissionFirstSecondThirdFourthFifth

Age (years and months)1 y 4 m1 y 6 m2 y 5 m2 y 7 m3 y 7 m

Chief complaintProductive cough, vomitingCoughFever, coughFeverFever

DiagnosisPneumoniaCongenital lobar emphysemaSepsis vs. pneumonia, CD4 deficiencyCOVID-19, sepsisSuspected sepsis

Duration of admission (days)7510145

Significant laboratory data(i) WBC 11,100/μl
(ii) Hb 11.6 g/dl
(iii) Plt 285,000/μl
(iv) Brain MRI: Thin corpus calusom splenium suggestive of mid-central cortical atrophy
(v) Spiral chest CT: Multiple cystic structures measuring about 60x55 × 40 mm in mid-zone of right lung contains multiple air-containing cysts with variable size and septation suggestive of type 1 Congenital pulmonary airway malformation. Diffuse patchy air space opacities in both upper and lower lobes with multiple air space nodules suggestive of bronchopneumonia
(i) WBC 7300/μl
(ii) Hb 10.4 g/dl
(iii) Plt 242,000/μl
(iv) Fibrinogen 611 mg/dl
(v) ESR 72 mm/hr
(vi) CRP >150 mg/l
(vii) LDH 801 IU/l
(viii) Sweat NaCl test normal
(ix) Lung biopsy: emphysematous lung admix by areas of bronchiectasis
(i) WBC 3000/μl (32% lymph.)
(ii) Hb 6.6 g/dl
(iii) Plt 488,000/μl
(iv) Flow cytometry: CD3 71%, CD4 12%§, CD8 55%, CD16 23%, CD19 6%§, CD56 23%, CD14 16%, CD4/CD8 0.22§
(v) Karyotype study on bone marrow culture: normal (46,XY)
(vi) Bone marrow aspiration biopsy/immunohistochemistry: erythroid hypoplasia with parvovirus B19 infection; 4–5% immature myeloid cells; about 30% hematogones
(vii) Left leg lesion skin biopsy: lymphocytic vasculitis
(viii) ANA 3.9 U/ml†
(ix) dsDNA (IgG) 26.0 IU/ml
(x) dsDNA (IgM) 32.7 IU/ml
(xi) ACLA IgM 51.1 U/ml
(xii) Anti Ro (SSA) IU/ml 83.2
(xiii) IgG 16.34 g/l
(xiv) IgM 1.97 g/l
(xv) IgA 1.21 mg/dl§
(xvi) IgE 15.8 IU/ml (normal)
(xvii) ASMA neg.
(xviii) P-ANCA (Anti MPO) neg.
(xix) C-ANCA (Anti PR3) 132.0 U/ml
(i) WBC 22,500/μl
(ii) Hb 11.3 g/dl
(iii) Plt 363,000/μl
(iv) ESR: 92 mm/hr
(v) CRP>150 mg/l
(vi) Procalcitonin 10 ng/ml
(vii) Ferritin 225.7 ng/ml
(viii) Chest HRCT: COVID-19
(i) WBC 2800/μl (33% lymph.),
(ii) Hb 9.3 g/dl
(iii)
Plt 422,000/μl
(iv) D-dimer 570
(v) Procalcitonin 0.82 ng/ml

High/positive; Borderline/equivocal;§ Low.