Vitamin D-dependent rickets type II in a cat

A cat with clinical signs Indicating rickets was diagnosed as having a defect of vitamin D receptors. Clinical signs had been seen from four months of age. Treatment with calcium supplementation and various forms of vitamin D did not alter plasma calcium levels or reverse skeletal lesions of lateral antebrachial bowing, lumbar spinal lordosis and costochondral beading. Analgesics were effective for relieving skeletal pain during the bone growth phase and were withdrawn when the animal reached skeletal maturity. Therapy for hip osteoarthritis was given from five years of age until the cat was euthanased at nine years of age as a result of refractory hip pain.     

Vitamin D-dependent rickets type 2 with characteristic radiographic changes in a 4-month-old kitten

This report describes the presenting signs, biochemical abnormalities, and radiographic changes in a 4-month-old kitten with vitamin D-dependent rickets type 2. Details of therapy are described and possible reasons for treatment failure are discussed.     

Vitamin D-dependent rickets in a Saint Bernard dog

Rickets diagnosed in a 12-week-old female St Bernard was attributed to an inborn error in vitamin D metabolism. Radiographically the physes were enlarged radially and axially, and metaphyseal bone adjacent to the physes was widened and cup-shaped. Serum biochemical abnormalities were hypocalcaemia, hypomagnesaemia, and hyperparathyroidism. Treatment was given with dihydrotachysterol, a synthetic sterol that is metabolised to a pharmacologically active analogue of 1,25 dihydroxycholecalciferol by the liver. This resolved the rachitic skeletal lesions completely in six weeks, as assessed radiographically, and maintained the serum calcium at the lower end of the normal range.     

Vitamin D-dependent non-type 1, non-type 2 rickets in a 3-month-old Cornish Rex kitten

CASE PRESENTATION AND ASSESSMENT: A 3-month-old female Cornish Rex kitten was found to have non-painful swelling of the carpal and tarsal regions when presented for routine neutering. The kitten was smaller in stature and less active than its siblings and, according to the owner, had a bunny-hopping gait, was reluctant to climb stairs and strained during defecation. Radiography of the affected limbs and a subsequent radiographic survey of the entire skeleton demonstrated features consistent with rickets. The three littermates were clinically and radiographically normal. As a nutritionally complete diet was being fed, it seemed most likely that the kitten had an inborn error related to vitamin D metabolism. Serum biochemistry demonstrated reduced total alkaline phosphatase activity and increased concentrations of parathyroid hormone. Concentrations of 1,25- and 25-hydroxycholecalciferol were markedly reduced, confirming the diagnosis of rickets. TREATMENT: The kitten was treated with calcitriol, administered orally once daily, and improved rapidly both clinically and radiologically. Serial laboratory studies suggested that the error in vitamin D metabolism was transient, and, at the time of writing, as an adult, the cat appears to require no ongoing replacement calcitriol therapy. CLINICAL RELEVANCE: This case emphasises the value of examining a full 'calcium profile' via a human or veterinary reference laboratory, and a favourable prognosis in some kittens with rickets makes such investigations worthwhile. Even when finances preclude detailed investigation, trial therapy using a nutritionally complete diet and physiological doses of calcitriol or cholecalciferol is inexpensive and can produce a good response.     

A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA

A 12-week-old domestic cat presented at a local veterinary clinic with hypocalcemia and skeletal abnormalities suggestive of rickets. Osteomalacia (rickets) is a disease caused by impaired bone mineralization leading to an increased prevalence of fractures and deformity. Described in a variety of species, rickets is most commonly caused by vitamin D or calcium deficiencies owing to both environmental and or genetic abnormalities. Vitamin D-dependent rickets type 1A (VDDR-1A) is a result of the enzymatic pathway defect caused by mutations in the 25-hydroxyvitamin D(3)-1-alpha-hydroxylase gene [cytochrome P27 B1 (CYP27B1)]. Calcitriol, the active form of vitamin D(3), regulates calcium homeostasis, which requires sufficient dietary calcium availability and correct hormonal function for proper bone growth and maintenance. Patient calcitriol concentrations were low while calcidiol levels were normal suggestive of VDDR-1A. The entire DNA coding sequencing of CYP27B1 was evaluated. The affected cat was wild type for previously identified VDDR-1A causative mutations. However, six novel mutations were identified, one of which was a nonsense mutation at G637T in exon 4. The exon 4 G637T nonsense mutation results in a premature protein truncation, changing a glutamic acid to a stop codon, E213X, likely causing the clinical presentation of rickets. The previously documented genetic mutation resulting in feline VDDR-1A rickets, as well as the case presented in this research, result from novel exon 4 CYP27B1 mutations, thus exon 4 should be the initial focus of future sequencing efforts.     

Vitamin D-responsive rickets in neonatal lambs

An unusual clinical presentation of rickets in nursing lambs is described. Two sets of twin nursing lambs were presented for enlarged joints and mild angular deformity. Rickets was suspected, based on radiographic evidence. Vitamin D deficiency was determined to be the cause, based on serum concentration and response to therapy.     

Vitamin Independent coagulopathy in a British Devon rex cat

Deficiencies of the vitamin K-dependent coagulation factors were identified in a Devon rex cat which had bled after castration. Haemorrhage was controlled by plasma transfusion. Clotting times were normalised by oral administration of vitamin K. This report confirms the existence of this bleeding disorder in a Devon rex cat in the United Kingdom.     

Multiple endocrine neoplasia type I in a cat

A 13-year-old 4.6-kg (10.2-lb) neutered male domestic long hair cat was evaluated because of a history of lethargy, exercise intolerance, and ventroflexion of the cervical portion of the vertebral column. After extensive assessment at the Veterinary Teaching Hospital at Michigan State University, the clinical signs were attributed to an aldosterone-secreting tumor of the adrenal gland. Subsequently, an insulin-secreting tumor of the pancreas as well as a functional parathyroid gland adenoma were diagnosed. All 3 masses were surgically removed, and the cat made a full recovery with complete resolution of clinical signs. The syndrome of multiple endocrine neoplasia is well described in humans, and the heritability of the condition has been confirmed. In cats and other species with 1 or more endocrine neoplasms, it is important to perform thorough clinical assessments of patients to identify other endocrine organs that may also be affected concurrently with neoplastic disease.     

Mucolipidosis type II in a domestic shorthair cat

A seven-month-old, female domestic shorthair cat was presented to the Veterinary Teaching Hospital, University of Zurich, with abnormal facial features, retarded growth and progressive hindlimb paresis. On physical examination the cat had a flat, broad face with hypertelorism, frontal bossing, small ears and thickened upper and lower eyelids. The corneas of both eyes were clear and the pupils were dilated. The skin was generally thickened, most prominently on the dorsal aspect of the neck. Radiography of the entire skeleton revealed a severely deformed spinal column, bilateral hip luxation with hip dysplasia, an abnormally shaped skull and generalised decreased bone opacity. The clinical features and radiographic changes were suggestive of mucopolysaccharidosis. The toluidine blue spot test on a urine sample, however, was negative for glycosaminoglycans. Further biochemical investigations revealed a deficiency of the enzyme N-acetylglucosamine-1-phosphotransfer-ase (GlcNAc-phosphotransferase, EC 2.7.8.17) in peripheral leukocytes and an elevation of many lysosomal enzymes in the serum of the cat which is diagnostic for mucolipidosis type II. Histology and electron microscopy of different tissues are briefly summarised. The findings of this cat, the first reported case of mucolipidosis type II are compared with other similar storage diseases described in the cat.     

Annuloaortic ectasia in a four-month-old male Newfoundland dog: long-term follow-up and immunofluorescent study

A 4 month-old, 14.8 kg, male Newfoundland dog was presented for cardiovascular evaluation following detection of a heart murmur. Echocardiography revealed enlargement of the sinuses of Valsalva and marked, diffuse dilation of the ascending aorta (annuloaortic ectasia, AAE), with mild/equivocal subaortic stenosis (SAS). The dog was monitored over the duration of its lifetime, with serial echocardiograms performed at 5, 6, and 8 months and 1, 2, 3, 4, 8, and 10 years demonstrating persistent, diffuse dilation of the ascending aorta. The dog lived until it was 10 years old and died of metastatic carcinoma. Postmortem examination confirmed AAE and mild SAS. Hematoxylin and eosin and Weigert van Gieson stains were used to compare the ascending aorta to the descending aorta and left subclavian artery, and to compare aortic samples to those of three control dogs. Histopathologic evaluation revealed mild medial degeneration in the ascending aorta of all four dogs. Immunofluorescent microscopy was used for determining the deposition of proteins known to play a role in aortic aneurysms in humans: fibrillin-1 (FBN1), latent transforming growth factor beta binding protein 4 (LTBP4) and fibronectin. The ascending aorta of the AAE case demonstrated reduced deposition of FBN1, indicating that its loss may have contributed to aortic dilation. Diffuse, primary ascending aortic dilation is uncommonly reported in dogs; when it is, it carries a poor prognosis. This case provides an important example of marked dilation of the ascending aorta in a dog that lived with no associated adverse effects for 10 years.     

Experimental rickets in broilers: gross, microscopic, and radiographic lesions. III. Vitamin D deficiency

Day-old broiler chicks were fed a vitamin D-deficient diet for 30 days. Gross, microscopic, and radiographic examinations of the proximal tibiotarsus were done at 2, 3, and 4 weeks of age. In 2-week-old chicks, there was variable lengthening and disorganization of the proliferating-prehypertrophied zone (P-PHZ), resorption of cartilage spicules in the degenerating hypertrophied zone and primary spongiosa, and lengthening of bone spicules in the secondary spongiosa; many bone surfaces were lined with increased osteoid. In 3-week-old chicks, there was a tendency for the P-PHZ to decrease in relative length and for cartilage spicules to increase in length. In 4-week-old chicks, however, there was marked lengthening of the P-PHZ, resorption of cartilage spicules, and replacement of the metaphysis with irregularly oriented islands of woven bone, osteoid, and loose fibrous connective tissue.     

Successful therapy of vitamin D-dependant rickets in a kitten

A 7 mo old, 2.4 kg, intact female kitten was evaluated for an inability to walk after falling out of the owner's arms. Diagnostic testing abnormalities included hypocalcemia, low ionized calcium, and elevated intact parathyroid hormone concentration. The 25-hydroxyvitamin D level was normal. Radiographic abnormalities included generalized osteopenia, a nondisplaced, folding fracture of the proximal right fibula, and sclerosis with a compression fracture of the proximal right tibia. Based on these findings and response to calcium carbonate and calcitriol therapy, a diagnosis of vitamin D-dependent rickets was made. Reports of similar cases in veterinary medicine are sparse and no other reports to date document radiographic abnormalities with a successful therapeutic outcome.     

Adamantinoma in a cat

SUMMARY An 18-months-old neutered male cat was presented for veterinary examination because of a rapidly enlarging mass in the region of the right upper canine tooth. Radiological examination showed displacement of this tooth and destruction of the right maxilla. Post mortem and histopathologic examination confirmed that the mass was a tumour, an adamantinoma.