Rare hypermanganesemia cured successfully at KMC

KATHMANDU: Kathmandu Medical College (KMC) has successfully treated a rare neurological disorder called hypermanganesemia for the first time in Nepal, marking a historic milestone in the country’s pediatric neurology field.

The patient, 21-month-old Aadhya BK from Arghakhanchi, had been suffering from the disorder, which affects only a small number of people globally.

Once able to walk normally, Aadhya suddenly lost her ability to walk, prompting her family to seek medical help from multiple centers without success.

Eventually, she was brought to Kathmandu Medical College, where a team led by pediatric neurologist Dr. Santosh Mishra conducted thorough evaluations.

The diagnosis revealed hypermanganesemia, a rare condition that severely affects the brain and nervous system and is notoriously difficult to treat.

Despite the complexities, Dr. Mishra and his team began immediate treatment. After several weeks of intensive care, Aadhya made a remarkable recovery and has regained the ability to walk.

“We feared our daughter might never walk again, but Dr. Santosh Mishra brought light back into our lives,” said her mother, Manisha BK.

This achievement is especially significant given that pediatric neurology is still in its early stages in Nepal.

The successful diagnosis and treatment of such a rare and complex condition is considered a groundbreaking moment for the country’s medical field.

Dr. Mishra is a leading expert in pediatric neurology, specializing in brain, nervous system, developmental disorders, and related kidney complications in children.

What is Hypermanganesemia?

Hypermanganesemia is a medical condition characterized by abnormally high levels of manganese in the blood.

Manganese is an essential trace mineral required for many physiological functions, such as enzyme activity and metabolism.

However, excessive manganese in the body can be toxic, especially affecting the nervous system.

Causes of Hypermanganesemia

1. Excessive Exposure to Manganese:

   • Occupational exposure (miners, welders, or workers in factories using manganese).

   • Environmental exposure (contaminated water or soil).

2. Genetic Disorders:

   • Some rare genetic mutations can cause impaired manganese excretion, leading to accumulation.

   • Example: Hypermanganesemia with dystonia type 1 and 2 (caused by mutations in SLC39A14 or SLC30A10 genes).

3. Liver Dysfunction:

   • Since manganese is cleared by the liver, liver diseases like cirrhosis or chronic liver failure can cause manganese buildup.

4. Parenteral Nutrition:

   • Receiving manganese intravenously in high doses can also lead to excess levels.

Symptoms of Hypermanganesemia

High manganese levels mainly affect the nervous system, especially the basal ganglia in the brain, leading to neurological symptoms:

• Movement Disorders:

  • Parkinsonism-like symptoms: tremors, rigidity, bradykinesia (slow movement).

  • Dystonia (muscle spasms and abnormal postures).

  • Difficulty walking or balance problems.

• Cognitive and Psychiatric Symptoms:

  • Confusion or memory problems.

  • Mood changes or behavioral disturbances.

• Other Possible Symptoms:

  • Fatigue.

  • Headache.

  • Weakness.

Diagnosis

• Blood manganese level test.

• MRI brain scan may show characteristic changes in basal ganglia.

• Genetic testing for hereditary causes.

• Liver function tests.

Treatment of Hypermanganesemia

1. Removing the Source of Manganese:

   • Stop exposure to manganese in the environment or workplace.

   • Adjust parenteral nutrition to avoid excess manganese.

2. Chelation Therapy:

   • Use of chelating agents like EDTA (ethylene diamine tetraacetic acid) or PAS (para-aminosalicylic acid) to bind manganese and help remove it from the body.

3. Symptomatic Treatment:

   • Medications for movement disorders (similar to Parkinson’s treatments).

   • Physical therapy for motor symptoms.

4. Liver Disease Management:

   • Treat underlying liver conditions to improve manganese clearance.

5. For Genetic Disorders:

   • Early diagnosis and treatment can reduce progression.

   • Liver transplant might be considered in some severe cases (rare).

Prognosis

• Early diagnosis and treatment can improve symptoms.

• Without treatment, manganese toxicity can cause irreversible neurological damage.