Clinical and genetic features of four patients with Pearson syndrome: An observational study

Abstract

Pearson syndrome (PS) is a multisystem mitochondrial cytopathy arising from deletions in mitochondrial DNA. Pearson syndrome is a sporadic disease that affects the hematopoietic system, pancreas, eyes, liver, and heart and the prognosis is poor. Causes of morbidity include metabolic crisis, bone marrow dysfunction, sepsis, and liver failure in early infancy or childhood. Early diagnosis may minimize complications, but suspicion of the disease is difficult and only mitochondrial DNA gene testing can identify mutations. There is no specific treatment for PS, which remains supportive care according to symptoms; however, hematopoietic stem cell transplantation may be considered in cases of bone marrow failure.We herein describe the clinical and genetic characteristics of four patients with PS. One patient presented with hypoglycemia, two developed pancytopenia, and the final patient had hypoglycemia and acute hepatitis as the primary manifestation. All patients had lactic acidosis. Additionally, all patients showed a variety of clinical features including coagulation disorder, pancreatic, adrenal, and renal tubular insufficiencies. Two patients with pancytopenia died in their early childhood. Our experience expands the phenotypic spectrum associated with PS and its clinical understanding.

Figure 1

BM aspiration of Patient 1. (A) Prussian blue iron stain (×1000 magnification). Yellow arrow indicates sideroblast. (B) Wright's stain (×400 magnification). Blue arrows indicate blast with cytoplasmic vacuolization.

Figure 2

Abdomen ultrasonography of Patient 2 revealing diffusely increased parenchymal echogenicity of the pancreas without focal lesion, suggesting fatty infiltration of the pancreas.

Figure 3

(A) Abdomen ultrasonography of Patient 4. Diffuse increased echogenicity with mild hepatomegaly, possible infiltrative disease involving the liver. (B) Kidney ultrasonography. Small cysts in both kidneys. This is a nonspecific finding, but the possibility of renal manifestation of mitochondrial disease is considered.

Figure 4

Liver biopsy of Patient 4. (A) hematoxylin and eosin stain (×400 magnification). Diffuse microvesicular and macrovesicular steatosis, ballooning change, and oncocytic change are noted. (B) Masson trichrome (×400 magnification). Periportal fibrosis and perisinusoidal fibrosis are highlighted.

Figure 5

The results of mitochondrial DNA partial sequences.

Figure 6

Abdomen ultrasonography. Surface nodularity with coarse echogenicity of the liver. Multiple small hypoechoic nodules scattered in both hepatic lobes suggesting liver cirrhosis with cirrhosis-related nodules.

Figure 7

Kaplan–Meier curves for the overall survival probability after first symptom onset.