Skeletal deformities associated with nutritional congenital rickets in newborn lambs.

CASE HISTORY: A group of 545 pregnant rising 2-year-old Coopdale ewes on a Southland sheep farm were grazed over winter on a fodder beet (Beta vulgaris) crop. Subsequently, 45 out of approximately 750 lambs were born with a variety of skeletal deformities, including shortened limbs, varus and valgus angular limb deformities, palmar grade stance and cranial bowing of the carpus. Analysis of the crop showed the fodder beet contained a low percentage of phosphorus. In addition, 60 out of 460 rising 2-year-old ewes that had been grazed on the fodder beet crop as 1-year-olds had incisor abnormalities and malocclusion. PATHOLOGICAL FINDINGS: Two affected lambs (1-day-old and 3-days-old) with representative clinical signs examined postmortem were found to have markedly enlarged costochondral junctions, and noticeably enlarged long bone metaphyses. In addition, one lamb had a dense band of metaphyseal sclerosis beneath the physes of all long bones examined. Histopathological findings included small islands and columns of chondrocytes and eosinophilic cartilage matrix present in the metaphysis. Metaphyseal trabeculae were disorganised and often lined by accumulations of pale pink osteoid; similar pale pink osteoid was also present in the cortices. Unerupted molar teeth in the affected lambs lacked a layer of enamel, and the dentine was irregular with globular basophilia. DIAGNOSIS: The gross and histopathological lesions were consistent with a diagnosis of rickets. CLINICAL RELEVANCE: Nutritional congenital rickets has not been previously diagnosed in sheep, but is a recognised disease of human infants with vitamin D deficient mothers. The rickets in affected lambs was most likely associated with phosphorus deficiency as a result of the pregnant ewes grazing fodder beet during gestation. While vitamin D deficiency was not definitively ruled out in these cases, practitioners are alerted to the possible effects of feeding phosphorus-deficient fodder beet to ewes for long periods during gestation and to 1-year-old sheep during important growth periods.

The Return of Congenital Rickets, Are We Missing Occult Cases?

Congenital rickets is the term given to fetus born with clinical features of rickets, but those born with biochemical evidence of rickets without obvious clinical features still can be considered occult congenital rickets. Some of the affected babies with this disease have the intrauterine rachitic environment, but a calcium trans-placental pump prevents the fetus from having clinical features of rickets. They may present with hypocalcemia few days after birth or later with more florid features of rickets. Congenital rickets cases born with florid features reported over the last 40 years are few and can be divided into two groups. The first due to severe maternal osteomalacia in which their bones were so decalcified to have enough calcium to be pumped to their fetus. Another group in which newborn babies were hypocalcemic due to other maternal diseases as malabsorption, celiac disease, pre-eclampsia, and prematurity. All inherited rickets cases per se, or as part of other syndromes can be considered congenital rickets. Most cases seen in our region are due to maternal vitamin D deficiency with symptoms becoming obvious when the infants are breastfed, or may present with hypocalcemic convulsions or craniotabes. This is a review of congenital rickets with the aim of shedding light on this potentially acute disease that needs more attention and awareness in the neonatal period to avoid rare serious complications as cardiomyopathy or myelofibrosis and the complications of hypocalcemic convulsions. Congenital rickets cases seen simulate a tip of an ice-burg and its prevention is an important issue, especially with the tremendous urbanization with tall buildings living in sun-deprived flats as the commonest type of residence leading to the increasing incidence of maternal osteomalacia and rickets.

Effect of vitamin D supplementation during pregnancy on neonatal mineral homeostasis and anthropometry of the newborn and infant.

Hypovitaminosis D is common in India. In the present prospective partially randomised study of vitamin D (D3) supplementation during pregnancy, subjects were randomised in the second trimester to receive either one oral dose of 1500 µg vitamin D3 (group 1, n 48) or two doses of 3000 µg vitamin D3 each in the second and third trimesters (group 2, n 49). Maternal 25-hydroxyvitamin D (25(OH)D) at term, cord blood (CB) alkaline phosphatase (ALP), neonatal serum Ca and anthropometry were measured in these subjects and in forty-three non-supplemented mother-infant pairs (usual care). Median maternal 25(OH)D at term was higher in group 2 (58·7, interquartile range (IQR) 38·4-89·4 nmol/l) v. group 1 (26·2, IQR 17·7-57·7 nmol/l) and usual-care group (39·2, IQR 21·2-73·4 nmol/l) (P = 0·000). CB ALP was increased (>8.02 µkat/l or >480 IU/l) in 66·7 % of the usual-care group v. 41·9 % of group 1 and 38·9 % of group 2 (P = 0·03). Neonatal Ca and CB 25(OH)D did not differ significantly in the three groups. Birth weight, length and head circumference were greater and the anterior fontanelle was smaller in groups 1 and 2 (3·08 and 3·03 kg, 50·3 and 50·1 cm, 34·5 and 34·4 cm, 2·6 and 2·5 cm, respectively) v. usual care (2·77 kg, 49·4, 33·6, 3·3 cm; P = 0·000 for length, head circumference and fontanelle and P = 0·003 for weight). These differences were still evident at 9 months. We conclude that both 1500 µg and two doses of 3000 µg vitamin D3 had a beneficial effect on infant anthropometry, the larger dose also improving CB ALP and maternal 25(OH)D.

Oral manifestations of lamellar ichthyosis in association with rickets.

Lamellar ichthyosis (LI) is a rare genetic condition that affects the skin, with an incidence of less than 1:300 000 in different parts of the world. This report describes a case of a 5-year-old girl with LI and rickets presenting with premature loss of 51, 52, 61, 62 and 71, grade II mobility in 72, 73, 81, 82 and 83 along with loss of supporting bone with 53, 63, 72, 73, 82 and 83. This is the first report describing oral manifestations of this combination of LI and rickets.

Hyperparathyroidism secondary to maternal hypoparathyroidism and vitamin D deficiency: an uncommon cause of neonatal respiratory distress.

A 4-day-old neonate presented with respiratory distress owing to chest wall deformity associated with metabolic bone disease. He was found to have congenital hyperparathyroidism and his mother was suffering from post-surgical hypoparathyroidism and vitamin D deficiency. The patient was given calcium lactate and maintenance doses of vitamin D. The respiratory distress subsided, the parathyroid hormone level returned to normal and by 4 weeks of age bone mineral content had improved. Congenital hyperparathyroidism should be considered in neonates presenting with respiratory distress and chest deformity.

Hypocalcemic seizure due to congenital rickets in the first day of life.

Congenital rickets is considered a rare disease entity in the newborn period. Hypocalcemic seizure due to congenital rickets has been reported, but this symptom generally appears at the earliest at the end of the first month of life. A congenital rickets case presented unusually with seizure on the first day of life is reported, and the continuing occurrence of the disease with serious consequences even at the beginning of life is emphasized. Despite improved prenatal care offered today, congenital rickets still occurs. It seems that vitamin D deficiency in the neonate secondary to maternal deficiency should be a consideration for the pediatrician or neonatologist caring for newborns. Physicians should be aware of risk factors that can trigger the development of this condition and should be alert to the signs of congenital rickets in order to commence appropriate treatment and prevent complications such as seizure occurring as early as shortly after birth.

Incidental finding of vitamin-D deficient rickets in an otherwise healthy infant--a reappraisal of current vitamin-D supplementation guidelines.

In an effort to prevent rickets and vitamin-D deficiency in healthy infants, the American Academy of Pediatrics recommends a supplement of 200 IU per day of vitamin D to all breastfed and nonbreastfed infants unless they consume at least 500 ml per day of vitamin-D-fortified formula or milk. Case reports of infantile vitamin-D-deficient rickets secondary to maternal vitamin-D deficiency have been reported but focused on mothers who had predictable risk factors for such a deficiency. We report on an infant with vitamin-D-deficient rickets who did not have nutritional risk factors and whose mother did not have nutritional or medical risk factors for such a deficiency. We conclude that the current vitamin-D supplementation guidelines be extended to all infants, regardless of feeding volume or source, or at least to all infants born to dark-skinned mothers.

Complications of vitamin D deficiency from the foetus to the infant: One cause, one prevention, but who's responsibility?

Calcium and phosphorus represent building material for bones. The supplier of these bone minerals is the hormone calcitriol, which originates from vitamin D, itself made by sunshine in human skin. Requirement for bone minerals is highest during phases of rapid growth, and no one grows faster than the foetus and the infant, making them particularly vulnerable. Deprivation of calcium, whether through low calcium intake or low vitamin D, leads to serious health consequences throughout life, such as hypocalcaemic seizures, dilated cardiomyopathy, skeletal myopathy, congenital and infantile rickets, and osteomalacia. These 5 conditions are often summarised as 'symptomatic vitamin D deficiency', are fully reversible but also fully preventable. However, the increasing prevalence of rickets and osteomalacia, and the deaths from hypocalcaemic cardiomyopathy, demand action from global health care providers. Clarification of medical and parental responsibilities is a prerequisite to deliver successful prevention programmes. The foetus and infant have the human right to be protected against harm, and vitamin D supplementation has the same public health priority as vaccinations.

Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases.

We have observed congenital hypophosphataemic rickets in two sons of a marriage between first cousins, their mother being clinically and biochemically normal. Both patients are now approaching middle age. In addition to severe childhood rickets and lifelong hypophosphataemia, their disease is characterised by gross osteosclerosis with extraskeletal ossification, clinically persistent osteomalacia in one and spinal cord compression in the other. The genetics of this disease can be satisfactorily explained only on the basis of autosomal recessive inheritance, a mode which has only once before been reported in the literature. The severity of certain features, which would be expected in a homozygous state, may help our understanding of the more usual X-linked form.

Rickets of prematurity: controversies in causation and prevention.

Metabolic bone disease in the growing premature infant is an important disorder owing to inadequate intake of calcium or phosphorus over an extended period of time. Prevention of serious bone disease is an important goal in the care of the VLBW infant. Attempts to reproduce intrauterine bone accretion rates in intrauterine life may be unnecessary and may result in potential complications.

Congenital rickets--a patient report.

We present a premature newborn with congenital rickets, born to a mother with untreated chronic renal insufficiency. X-ray films showed blurred metaphyseal ends and decreased bone density in the femurs and ribs. With treatment including calcium, phosphate, and vitamin D, her rickets healed and she grew normally.

Metabolic studies in congenital vitamin D deficiency rickets.

Congenital rickets in 3 newborns of mothers with advanced nutritional osteomalacia, healed with maternal breast milk feeding when mothers alone were given calcium supplements and 7.5 mg of intravenous D2 and the mother baby pair protected from sunlight. Maternal plasma biochemistry indicated more severe vitamin D deficiency compared to their newborns (intrauterine foetal priority). The first dose of 7.5 mg of vitamin D3 and calcium supplements to mother healed osteomalacia but did not appear to heal the rickets of their breast fed infants (extrauterine maternal priority for vitamin D). A second dose given at 3 months interval healed the rickets in their infants and the biochemistry of the mother and baby returned towards normal. Congenital rickets developed when maternal bone mineral and vitamin D stores had been completely exhausted. Raised IPTH levels in the newborn suggested that foetal parathyroids were responsive to hypocalcaemic stimulus.

[Nutritional fetal rickets. A case report]. / Le rachitisme carentiel du foetus. A propus d'un cas.

We report the case of a newborn who showed typical signs of rickets at birth craniotabes and severe hypocalcemia. The diagnosis of fetal rickets was confirmed by radiography. Maternal deficiency was revealed by an excessively low vitamin D level. The multiparous Moroccan mother had suffered low back pain and paraesthesia for several years. She wore the veil and rarely left her home. Nutritional and vitamin D deficiency was demonstrated. We report this exceptional case to recall the importance of vitamin D in the development of fetal calcium supply, the prevention of gravid osteomalacia and the prevention of neonatal hypocalcemia. Vitamin D supplementation (ideally 1000 IU per day during the third trimester or at least one 100,000 IU dose at the sixth and eighth months or a single dose of 2 to 3,000,000 IU at the sixth month) should be the rule in pregnancy.

[Pathological and X-ray study on bony specimens of rickets from 124 fetal and infantile autopsies].

The results of pathological and X-ray study on rickets of bony specimens from fetal and infantile autopsies are reported. Three important links were stressed in designing the study. The cases were divided into two groups: "congenital" and "postnatal". Each case has pathological slides and X-ray photographs of the rib, ulna and radius. GMA sections were used in this study to avoid decalcification and constriction of the bony specimens. The results showed that: Congenital rickets is existent in Beijing. Its incidence is 25.4%. The bony change was seen as early as 30 weeks of pregnancy. The pathological and X-ray features are not different between the "congenital" and "postnatal" groups; The incidence of fetal and infantile rickets is 35.5%. It is the highest in the rib, moderate in the ulna and lowest in the radius. The correlation of X-ray and pathological rickets was found to be 82.5% (rib), 77.3% (ulna) and 50% (radius). It can be seen that X-ray examination of the rib may raise the diagnostic rate to 12 times of that based on traditional wrist examination.

[Radiological identification of the otic capsule in severe rickets]. / Identificación radiológica de la cápsula ótica en un caso de raquitismo severo.

We report the case of a patient with no otorhinolaryngologic symptoms who had an unusual radiological finding in the petrous bone secondary to congenital rickets. The impaired ossification of the rickets did not affect the compact bone of the otic capsule, making the bony labyrinth perfectly visible inside the temporal bone of osteoid substance.

[Experience in treating metabolic osteopathies with 1 alpha-hydroxyvitamin D3 (oksidevit)]. / Opyt lecheniia metabolicheskikh osteopatii 1 al'fa-gidroksivitaminom D3 (oksidevitom).

The action of 1 alpha-hydroxycholecalciferol (oxydevit) was estimated in 204 patients with renal osteodystrophy, osteoporosis of varying etiology, osteomalacia because of malabsorption, congenital rickets-like diseases. The drug was shown to be highly effective in the treatment of secondary hyperparathyroidism in uremia, steroidal and senile osteoporosis. The treatment involved replacement therapy.

Congenital rickets presenting as refractory respiratory distress at birth.

Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.

[An uncommon cause of hypocalcemic convulsion: congenital rickets. Case report]. / Una causa infrecuente de convulsión hipocalcémica: raquitismo congénito. Caso clínico.

Vitamin D deficiency and rickets are major health problems in developing countries. Congenital rickets is a rare form of rickets. Maternal vitamin D deficiency is the most important risk factor for vitamin D deficiency and rickets in newborns and early infancy. In this report, we presented a two-month old infant with seizures while hospitalized for pulmonary infection. Finally, congenital rickets due to maternal vitamin D deficiency was diagnosed.