Neuro genetics

Neuronal ceroid lipofuscinosis type 11 in early childhood
Chinmaya Singh, Nc Kiran, Geeta Kampani, Kamakshi Dhamija

BMJ Case Reports CP May 2025, 18 (5) e265803; DOI: 10.1136/bcr-2025-265803
De novo LMNA mutation in a migrant child presenting with respiratory failure
John Chukwuma Martin-Agba, Elohor Omoefe Okoro, Owora Amadi, Kene Maduemem

BMJ Case Reports CP Apr 2025, 18 (4) e265340; DOI: 10.1136/bcr-2025-265340
Neurofibromatosis associated with anorexia nervosa and attention-deficit hyperactivity disorder
Murray Glen Tucker, Peter M Haddad

BMJ Case Reports CP Apr 2025, 18 (4) e264260; DOI: 10.1136/bcr-2024-264260
Inferior olivary hypertrophy and palatal tremor in cerebrotendinous xanthomatosis
Riya Sharma, Tanish Modi, Ritu Shree, Chirag K Ahuja

BMJ Case Reports CP Mar 2025, 18 (3) e262226; DOI: 10.1136/bcr-2024-262226
Isolated central nervous system haemophagocytic lymphohistiocytosis with PRF1 gene mutation presenting as fever of unknown origin
Vijay Ganesh, Aneesh Mohimen, Puneet Singh, Sanjeev Khera

BMJ Case Reports CP Feb 2025, 18 (2) e262752; DOI: 10.1136/bcr-2024-262752
‘No causative variants found’: an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing
Patricia A Wells, Anna P Basu, Laura M Yates

BMJ Case Reports CP Jan 2025, 18 (1) e263723; DOI: 10.1136/bcr-2024-263723
Diagnosing Huntington’s disease on the medical ward
Jessica Tuan

BMJ Case Reports CP Jan 2025, 18 (1) e264004; DOI: 10.1136/bcr-2024-264004
Episodic headaches and cognitive decline: uncovering neuronal intranuclear inclusion disease in a young patient
Matthew Shrimpton, Yvette Paula Gasser, Adrienne Sexton, Abhishek Malhotra

BMJ Case Reports CP Jan 2025, 18 (1) e262351; DOI: 10.1136/bcr-2024-262351
QARS1-related leukoencephalopathy with epilepsy
Aarushi Jain, Connolly Steigerwald, Daniel Miles, Gopi Nayak, Nicolas J Abreu, Claire Miller

BMJ Case Reports CP Dec 2024, 17 (12) e262981; DOI: 10.1136/bcr-2024-262981
Congenital alopecia with multiple nodules over face in an infant
Rinkal Madhudiya, Vimesh Parmar

BMJ Case Reports CP Dec 2024, 17 (12) e263595; DOI: 10.1136/bcr-2024-263595

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Neuro genetics

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