A collection of short case reports intended to take you through an evolving patient presentation, allowing you to consider the differentials as you go. Based on published case reports, these stories are intended to provide useful insights into rare disease presentations.

Metabolic mysteries

Dr Ashlee Stiles discusses the work-up of a 13-month-old girl with hypoglycaemia and discusses the need to balance prompt metabolic work-up with managing the acutely unwell patient in front of you. Critical sample collection is key and don't forget the urine. 

Read the report here: https://www.sciencedirect.com/science/article/pii/S2214426924000156?via%3Dihub

Metabolic mysteries: Hypoglycemia? Don't forget the urine

In this Metabolic Mystery, Dr Eamon McCarron unravels an unexpected diagnosis in a 55-year-man with a 2-year history of dragging his legs, poor balance, and paresthesia along the outer aspect of his right thigh. He underwent various assessments and investigations over the next 3 years before a diagnosis was made. 

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.64031#

Metabolic mysteries: New weakness, poor balance and paresthesia at 55 years of age

Dr Mrinmayee Takle and Dr Kuntal Sen discuss the challenging dilemma of a child, presenting from infancy with recurrent seizures and three different (wrong) diagnoses including opsoclonus-myoclonus-ataxia syndrome.

Read the article: https://doi.org/10.1002/cns3.20098
Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen

Metabolic mysteries: A child with episodic seizures and multiple diagnoses

Dr JP Stevens shares the mystery of a 5-year-old boy presenting with severe gastrointestinal bleeding and cholestasis. Inpatient investigation reveals gallbladder polyps and, on assessment after recovery he is found to have signs of developmental delay. Can you recognise the clues in the presentation?

https://onlinelibrary.wiley.com/doi/10.1097/PG9.0000000000000122

Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay

A newborn with no symptoms, an unexpected X-ray finding, and a puzzle that points in many possible directions. Follow Dr. Tolulope Tolufase as he unpacks a neonatal case where incidental adrenal calcifications conceal a far deeper mystery.

Read the full report here: https://doi.org/10.1136/bcr-2025-265278

Metabolic mysteries: Incidental adrenal calcifications in a neonate

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.