A challenging diagnosis of hereditary microspherocytosis (Minkowski-Chauffard disease) in a child (a case report)

Abstract

Hereditary microspherocytosis (HM) is an inherited hemolytic anemia associated with erythrocyte membrane abnormalities which should be suspected in patients with a triad of symptoms: anemia, jaundice, and splenomegaly. The distinct clinical manifestations may not appear until a certain age, resulting in many undiagnosed mild-to-moderate forms of HM. Although modern technology allows to detect genetic mutations for HM confirmation, many issues remain largely unresolved and need to be addressed.

The aim: to analyze a complex clinical case of HM in a child with a long-term diagnostic stage to raise awareness among physicians about this pathology.

The clinical case of a 17-year-old boy with a clinical diagnosis of “Hereditary microspherocytosis, crisis course, complicated by secondary chronic calculous cholecystitis” was discussed. Clinical and paraclinical findings were analyzed. The medical case describes HM in the boy who presented with the first symptoms of anemia at the age of 3 years, and manifestations of jaundice syndrome with hyperbilirubinemia, hepatomegaly debuted only at the age of 12 years. Such features of the disease course have translated to diagnostic delay of HM and the development of calculous cholecystitis as a complication.

Conclusions. Currently, mild forms of hereditary microspherocytosis are underdiagnosed. Mild and moderately severe course of hereditary microspherocytosis, apart from jaundice and moderate splenomegaly, can be manifested by cutoff hemoglobin values, making it difficult to timely diagnose primary disease and its complications. Since the most common complication of hereditary microspherocytosis is gallstone disease, regular ultrasound examinations of the gallbladder and monitoring of the hepatobiliary system are the best imaging modalities for patients even in the absence of overt hemolysis. In case of conservative therapy ineffectiveness, it is necessary to consider the issue of performing a complete or partial splenectomy, and in the presence of a complication in the form of calculous cholecystitis, it should be combined with cholecystectomy. The analyzed clinical case is a demonstrative example of underdiagnosed mild hereditary microspherocytosis complicated by secondary chronic calculous cholecystitis.

The research was carried out in accordance with the principles of the Declaration of Helsinki. The informed consent of the patients was obtained for the study.

The authors have no conflicts of interest to declare.