Early and accurate diagnosis of Gaucher disease can prevent poor outcome in children and adolescents affected by the rare illness, a new case report from China suggests.
The case was described in the study, “Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report,” published in the Journal of Medical Case Reports.
“This report aims to emphasize the importance of early recognition [of Gaucher disease] by clinical manifestation and [tissue] findings,” the study’s author, Meng Yang, wrote. “Gaucher disease should be considered in the differential diagnosis of children with unexplained symptoms in multiple systems.”
The 15 year-old Chinese boy presented with fever, weakness, difficulty breathing, and a pale complexion. He had been experiencing the symptoms for the past two weeks. He also developed a distended abdomen with fluid accumulation.
Clinical and family history did not reveal any significant events. The boy had three healthy siblings, with no signs of potential inherited diseases. His mother had an unremarkable pregnancy and birth. The boy had slow growth and development, yet his school records were excellent.
By age 9, the boy had surgery to remove his spleen after unexplained enlargement. He had a history of prolonged hospital admissions for fever of unknown origin, without reaching a clear diagnosis.
An initial physical examination did not find any fresh skin rash, signs of liver damage, or small blood vessel damage. Still, he had fluctuating body temperature, pallor, inability to sleep, and distress.
The boy had palpable superficial lymph nodes, suggesting an active immune reaction, and evaluation of his distended abdomen revealed an enlarged and hardened liver.
Neurological assessment was within normal parameters, and results of other systemic examinations were generally normal.
Platelet and hemoglobin levels were continuously reduced, while liver enzymes were slightly to moderately increased. Kidney function tests were normal.
The boy was positive for antibodies against the hepatitis E virus and pneumophila bacteria, but was negative for other infections or autoantibodies linked to autoimmune disorders.
Although blood and fungal cultures retrieved negative results, his bone marrow had features of infections and occasional atypical white blood cells.
Imaging scans confirmed that he had a grossly enlarged liver, a swollen gallbladder wall, renal stones, and massive accumulation of fluids in the abdomen. He also had a slight accumulation of fluids around his heart, but with normal pulmonary arterial pressure.
Enhanced computed tomography (CT) scans revealed severe scarring in the pulmonary tissue, a condition known as interstitial fibrosis.
The patient received several therapies, including anti-infection and anti-virus medicines and diuretics to reduce swelling and protect the liver and gallbladder. He was also treated with human serum albumin, immunoglobulin, and blood transfusion, after which the symptoms improved, and peak body temperature decreased.
“However, it was difficult to explain the illness with one etiology. It was assumed that it was probably a kind of rare genetic metabolic disease associated with infection,” the researcher stated.
To confirm the diagnosis, the team examined the spleen tissue samples collected during the surgery six years earlier. They found a large number of Gaucher cells with several alterations of spleen structures, providing irrefutable evidence of Gaucher disease type 1.
While the boy’s condition could be managed with enzyme replacement therapy such as Cerezyme (imiglucerase, by Sanofi Genzyme), the parents could not afford the therapy.
“During a subsequent six-month telephone follow-up, he said that he was able to continue with his school life, and do some mild physical activities; he no longer had a fever,” the researcher stated.
A new routine blood analysis revealed mild anemia, and a new CT scan showed no significant progress of the previously identified pulmonary infection. At this point, the family was willing to consider using Cerezyme after raising enough money.
“Due to China’s huge population base, the number of patients with Gaucher disease is estimated to be more than 1,000 nationwide, but it is rarely diagnosed and reported internationally,” Yang said.
Accurate diagnosis and treatment can be challenging, as it “involves pediatrics, genetic metabolism, internal medicine, imaging, pathology, molecular biology, and so on,” the author wrote. Still, its early recognition is critical to “decrease morbidity and reduce as far as possible visceral and skeletal involvement.”
