Case Summary: A 2-year-old neutered female domestic shorthair cat presented with a history of hypodipsia, recurrent hypernatraemia, pelvic limb ataxia and tremor. The serum arginine vasopressin level was low for the serum osmolality. MRI of the brain revealed a failure of separation of the cerebrum, which manifested as absence of the rostral part of the corpus callosum, fornix and septum pellucidum, thus resulting in a single fused ventricle. The diagnosis was lobar holoprosencephaly with hypodipsic hypernatraemia.
Relevance And Novel Information: To our knowledge, this is the first description of the MRI characteristics of lobar holoprosencephaly in a cat. This report suggests that MRI examination should be considered for precise diagnosis of hypodipsic hypernatraemia in young cats.
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http://dx.doi.org/10.1177/2055116918801602 | DOI Listing |
Int J Mol Sci
January 2025
Department of Developmental and Regenerative Biology, Medical Research Institute, Institute of Science Tokyo, Tokyo 113-8510, Japan.
The eye primordium of vertebrates initially forms exactly at the side of the head. Later, the eyeball architecture is tuned to see ahead with better visual acuity, but its molecular basis is unknown. The position of both eyes in the face alters in patients with holoprosencephaly due to () mutations that disturb the development of the ventral midline of the neural tube.
View Article and Find Full Text PDFCureus
December 2024
Neonatology, Souss Massa University Hospital Center, Agadir, MAR.
Hydranencephaly (HE) is a severe and isolated malformation affecting the cerebral mantle. In this condition, the cerebral hemispheres are entirely or almost entirely absent, replaced by a membranous sac filled with cerebrospinal fluid, while the midbrain is usually preserved. Although HE is a relatively rare brain disorder, the differential diagnosis must include conditions such as severe hydrocephalus, porencephalic cysts, and alobar holoprosencephaly.
View Article and Find Full Text PDFClin Pediatr Endocrinol
January 2025
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Solitary median maxillary central incisor (SMMCI) syndrome, the mildest form of the holoprosencephaly spectrum, is a rare anomaly characterized by the presence of a single midline central incisor in both the deciduous and permanent dentitions. Affected individuals can present with additional midline defects beyond dental findings. The 22q11.
View Article and Find Full Text PDFHeliyon
December 2024
Department of Radiology, Obstetrics and Gynecology Hospital, Fudan University, PR China.
Objectives: To clarify the prenatal magnetic resonance (MR) imaging characteristics of fetal intracranial haemorrhages (ICHs) in a large cohort and correlate them with birth outcomes.
Methods: We retrospectively reviewed MR images of fetuses with ICH on screening ultrasound (US) on picture archiving communication system (PACS) servers within a nearly ten-year period from two medical tertiary centres. The indications, main abnormal findings and coexistent anomalies were recorded by two experienced radiologists with census readings.
Pediatr Radiol
December 2024
Sivas Cumhuriyet University Faculty of Medicine, Department of Radiology, Sivas, Turkey.
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