Rare Medical Cases Highlight Doctors' Success

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Rare Medical Cases Highlight Doctors' Success

Monday, 08 July 2024 | Archana Jyoti

Rare Medical Cases Highlight Doctors' Success

ARCHANA JYOTI talks about two rare medical cases from diverse corners of India: one in a private hospital and the other in a specialised government paediatric facility. Both were successfully managed by dedicated medical teams, driven by the profound hope of patients and families

Case 1

Facial Nerve Schwannoma  at Fortis Vasant Kunj, Delhi

At Fortis Hospital in Vasant Kunj in Delhi, a 39-year-old woman from Kenya arrived with troubling symptoms: complete paralysis on her right side, accompanied by severe hearing and vision loss. Diagnostic tests revealed an extremely rare facial nerve Schwannoma, a tennis ball-sized tumor nestled intricately within the delicate facial nerve.

Led by Dr. Anurag Gupta, a seasoned Neurosurgeon, and Dr. Yogesh Jain, an expert in ENT and Skull Base surgery, the team embarked on a daunting 15-hour operation. Their goal: to remove the tumor without compromising vital facial functions. The procedure was meticulous, requiring careful navigation around sensitive nerve structures.

Dr. Gupta highlighted the complexity and risks associated with the surgery, emphasising that timely intervention was critical to preventing further neurological deterioration. The successful outcome allowed the patient to be discharged after 12 days in stable condition, with improvements in vision, mobility, and overall health.

Facial nerve schwannomas are extremely rare, accounting for less than 1 per cent of all temporal bone tumors, and typically grow slowly. “This case underscored the importance of specialized care and timely intervention in managing such complex medical conditions,” said Dr Gupta.

Case 2

Neonatal Ichthyosis-Sclerosing Cholangitis (NISCH Syndrome) at PGICH Noida, UP

Meanwhile, around 50 km away at PGICH Noida in a starkly contrasting medical setting, a two-month-old infant from Muzaffarnagar, Uttar Pradesh presented with a puzzling combination of symptoms: severe skin ichthyosis and signs of liver involvement, a rare occurrence in medical literature.

After thorough genetic testing, the medical team, led by Dr. Mayank Nilay and Dr. Rani Manisha, and Dr. Varun Venkatraghavan, specialists from Medical Genetics and Pediatric Gastro Medicine, diagnosed the child with an extremely rare genetic disorder, Neonatal Ichthyosis-Sclerosing Cholangitis (NISCH Syndrome), caused by a genetic mutation.

The syndrome is characterised by scalp hypotrichosis (sparse and coarse hair), scarring alopecia (inflammatory condition causing hair loss), ichthyosis (dry and itchy skin) and sclerosing cholangitis (inflammation of liver ducts).

Treatment was multidisciplinary and intensive. The team focused on hydrating the infant’s skin with specialized creams and oils while considering potential future liver transplantation due to the syndrome’s progressive liver complications. “The course may vary with remission of liver symptoms while some children may also require liver transplantation. Skin ichthyosis is managed by hydration of the skin (topical application of creams and emollient oils), retinoids and sunlight exposure,” Dr Nilay said.

Given the rarity of the condition, close monitoring and continuous care were pivotal in managing the child’s complex medical needs.

“The case underscores the need for greater awareness about rare genetic disorders in India. There are children with genetic disorders who remain undiagnosed or misdiagnosed due to lack of knowledge and resources. Any baby with multiple organ issues needs to be seen immediately,” said Dr Nilay.

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