Peer-reviewed veterinary case report
Puppy Schnauzer with head tilt and circling linked to brain lesion
By Liatis, Theofanis et al.·Published in Frontiers in veterinary science·2025·Department of Clinical Science and Services, United Kingdom·View original on PubMed →
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Original publication title: Case Report: Phenotypic and genetic characterization of a presumptive sporadic hypothalamic hamartoma in a standard Schnauzer dog.
- Species:
- dog
Plain-English summary
A 7-month-old male Standard Schnauzer was brought in for a chronic left head tilt, episodes of imbalance, and repetitive movements of the head and neck to the left. These symptoms worsened with stress, and the dog couldn't be distracted during these episodes. After a thorough examination and MRI, the vet suspected a rare brain condition called hypothalamic hamartoma. Genetic testing revealed mutations that might be linked to this condition. While the dog’s symptoms were concerning, the findings could help guide future treatment options.
People also search for: dog head tilt causes · Schnauzer neurological symptoms · hypothalamic hamartoma in dogs · dog imbalance treatment
Abstract
INTRODUCTION: Hypothalamic hamartoma (HH) is a rare suprasellar developmental lesion that resembles ectopically located grey matter within the hypothalamus. Genetic mutations in genes involved in the sonic hedgehog intracellular pathway have been reported in humans with HH. Hypothalamic hamartoma has been reported in dogs; however, no genetic mutation has been associated with it. The aim of this study was to phenotypically and genetically characterize presumptive sporadic HH in a dog. CASE PRESENTATION: A 7-month-old male Schnauzer was presented with chronic left head tilt, episodes of imbalance, circling to the left, and continuous repetitive movements of the head and neck to the left. These episodes could increase with stress or interaction, and the dog could not be distracted out of it. Clinical examination was normal. Neurological examination revealed a continuous repetitive involuntary movement of the head and neck to the left and left ocular torsion. Haematology and serum biochemistry were within normal limits. Magnetic resonance imaging of the head raised a suspicion of HH. Whole genome sequencing and genetic analysis identified germline variants with a high predicted impact on the encoding proteins in the candidate genes,, and, which are involved in ciliogenesis and may be associated with the manifestation of HH in this dog. CONCLUSION: Sporadic HH should be considered in the differential diagnoses list for a young dog with chronic progressive intracranial neurologic signs and may be genetically associated with germline mutations in primary cilia-related genes.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/40496915/