Rare Genetic Condition Mimics Multiple Sclerosis, Leads to Misdiagnosis
Singapore – Poonam Choudhary’s decade-long battle with debilitating neurological symptoms, initially mistaken for vitamin B12 deficiency and later resembling multiple sclerosis, was ultimately revealed to be a rare genetic disorder. Her case highlights the challenges in diagnosing complex conditions and the importance of genetic testing.
A Decade of Misdiagnosis
Ms. Choudhary, a 43-year-classic mother of two, first experienced symptoms in 2018, including leg weakness and vision problems. Initial medical evaluations at National University Hospital (NUH) suggested vitamin B12 deficiency, and treatment with injections provided temporary relief Poonam Choudhary – Delhi, India | Professional Profile – LinkedIn. Still, her symptoms recurred in 2020, coinciding with the COVID-19 pandemic, and worsened after a move in 2022, leading to further hospitalizations and resumed B12 injections.
The Return of Debilitating Symptoms
By July 2025, Ms. Choudhary experienced a complete loss of physical function, including blurry vision, double vision, difficulty speaking, and urinary incontinence. Her son, Aarav Choudhary, described her condition as unrecognizable, noting a stark contrast to her typically articulate nature.
Unraveling the Genetic Mystery
Neurologists at NUH suspected spastic paraparesis, a condition characterized by abnormal spinal cord function, but extensive investigations ruled out common causes like inflammation, infection, and tumors. After repeated symptom flare-ups and limited long-term improvement, genetic specialists were consulted. Adjunct Associate Professor Chin Hui-Lin, from the department of paediatrics at Khoo Teck Puat – National University Children’s Medical Institute, confirmed a diagnosis of MTHFR-related autosomal recessive hyperhomocysteinemia through genetic testing.
Understanding MTHFR-Related Hyperhomocysteinemia
This rare condition, affecting approximately one in 100,000 to one in 200,000 people, results in elevated levels of homocysteine, an amino acid in the blood. Elevated homocysteine levels are associated with increased risk of cardiovascular disease, stroke, blood clots, and cognitive decline, including memory loss and confusion Poonam Chaudhary – The Certified Diabetes Educator (CDE ….
Treatment and Recovery
Ms. Choudhary was prescribed betaine in November 2025, leading to significant improvements in her cognitive function, memory, movement, and coordination. She is now able to resume her home baking business, providing for her family. Her son, Aarav, expressed joy at seeing her regain her abilities, even witnessing her dancing again.
The Importance of Genetic Testing
This case underscores the value of considering genetic testing in complex or recurrent neurological cases where initial diagnoses are unclear. Early and accurate diagnosis can lead to appropriate treatment and improved patient outcomes.