Two Children Suffering from Rare Diseases Treated at Delhi Hospital

A four-year-old girl suffering from a rare congenital condition, whose worldwide incidence is ”2-3 cases per million of population”, has received a new lease of life after undergoing a therapy at a leading private hospital here, doctors said on Tuesday.

Congenital neutropenia is a cluster of genetic diseases and causes low levels of neutrophils. These conditions can lead to recurrent infection of skin, sinuses, stomatitis and infection of lung, bone and nervous system, the doctors said.

The child patient was recently brought to the Fortis hospital at Shalimar Bagh here with fever and multiple oral ulcerations, the hospital said in a statement on Tuesday.

A team of doctors led by Dr Arvind Kumar, director and head of paediatrics department at the hospital, treated the patient with a specific therapy and a well-curated approach, it said.

The girl was suffering from congenital neutropenia, ”whose worldwide incidence is 2-3 cases per million population”, the hospital claimed.

The patient was admitted to several hospitals and treated with antibiotics, but there was no improvement in her condition, it said. ”Detailed analysis of her previous medical reports revealed that on multiple occasions her neutrophil counts were 100 to 500 (normal counts for her age is more than 1500) which triggered a look for rare disease of congenital neutropenia,” the statement said.

A genetic testing was conducted as it is a useful tool in the diagnosis and management of these group of inherited diseases. The child received a specific therapy — granulocyte colony stimulating factor — a medication which increases the white blood cells by stimulating bone marrow, and clinical condition of the child showed dramatic improvement, it said.

In another instance, Dr Kumar treated a six-year-old boy with a rare disease of agammaglobulinemia (Burton’s Disease). The boy was suffering from high-grade fever, cough, purulent eye, ear discharge and loose stool.

The worldwide incidence of this rare disease is 1:190,000 male births. From India, about 50-odd cases have been reported so far, the hospital claimed.

A close look at the previous reports showed the male child was treated multiple times for pneumonia, ear infections, and loose stool. He had infections with rare bacteria and viruses, the hospital said.

Finally, the team of doctors treated the child with the help of intravenous immunoglobulin therapy to fight infections and the child gradually recovered, it added.

The therapy for this disease works by providing the body with antibodies that it cannot produce on its own, which thus prevent infection. It is given every three weeks and it is to be used for life-long, the hospital said.

”In our daily life, we come across children, who fall sick with fever, mild cold, cough, sinus infection, ear infection, urinary tract infection and infections of the throat, recurrent diarrhoea, etc. A majority of these children need symptomatic treatment with paracetamol and sometimes antibiotics,” Dr Kumar said.

However, some children require frequent hospital admissions and multiple antibiotics. They might also require either Hematopoietic Bone Marrow Transplant or treatment with specific agents, he said. ”These patients have poor growth too and thus they require investigations to rule out rare immunity disorders known as primary immune deficiency disorder,” Dr Kumar said.

In congenital neutropenia, if hemopoietic stem cell transplant is done, only then the treatment with injection will stop. ”However, in agammaglobulinemia, the treatment is for life-long. They can live a better life free from infections and thrive well if timely diagnosis is done,” he added. The two child patients have recovered from fever and recurrent infections, gained weight and their appetite also improved, the hospital said.

(This story has not been edited by Devdiscourse staff and is auto-generated from a syndicated feed.)