Twin girls with hypophosphataemic rickets and papilloedema.

A 7 year-old twin girl with hypophosphataemic rickets was evaluated for a recent onset of mild strabismus.She was a homozygous twin sister with hypophosphataemic rickets diagnosed at the age of 2 years, with a mutation in intron 21 of the PHEX gene, which was also present in her sister.The girls' clinical histories were remarkable for an important lower limb varus that progressively improved after starting phosphate supplementation with a galenical solution (Joulies solution 1 mmol phosphate/ml) and vitamin D 1,25 OH.During the examinations, both girls were in good general condition. Physical examinations were unremarkable, except for tibial varus, bilateral fifth finger clinodactyly and bilateral syndactyly of the third and fourth foot fingers. No major head shape abnormalities were noticeable except for a high forehead.One patient presented with a slight strabismus, normal isochoric isocyclic and reactive pupils, no signs of cranial nerve deficit, and no alterations in the rest of the neurological examination. An ophthalmological evaluation showed bilateral papilloedema. A cerebral MRI scan was then performed, suspecting elevated intracranial pressure (figure 1). The same examination was performed on the asymptomatic sister which also demonstrated papilloedema with similar findings on cranial MRI too.

Raquitismo vinculado al uso de fórmulas elementales: Reporte de caso / Rickets associated to the use of elemental formula: A case report

El raquitismo afecta la diferenciación y mineralización del cartílago de crecimiento como consecuencia, en última instancia, de una alteración en los niveles de fósforo y/o calcio. El secundario a la deficiencia de vitamina D es la forma más frecuente (raquitismo carencial). Las manifestaciones clínicas durante los primeros años de vida suelen comprometer en forma más marcada las epífisis de los huesos.Se describe el caso de un lactante de 8 meses con diagnóstico de alergia a la proteína de la leche de vaca que presentó múltiples fracturas patológicas mientras se encontraba bajo tratamiento con fórmulas lácteas a base de aminoácidos. Se efectuó el diagnóstico de raquitismo hipofosfatémico por deficiencia de fósforo y, tras 3 meses de tratamiento con sales de fosfato, calcio, calcitriol, el abandono paulatino de la leche elemental y el descenso gradual de la medicación antiácida, el paciente evolucionó con curación clínico-radiológica del cuadro

The rickets is a disease that affects the differentiation and mineralization of the growth cartilage, as an ultimate consequence of a balance loss in calcium and phosphate levels. Vitamin D deficiency is the most common cause of the rickets (nutritional rickets). Its clinical manifestation during the first years of life involves long bones epiphysis in a more severe way.We report an 8-month-old infant who was diagnosed with cow ́s milk protein allergy and suffered from multiple fractures while receiving elemental formula as part of his treatment. The final etiology was hypophosphatemic rickets secondary to phosphate deficiency, and after 3 months of phosphate, calcium and calcitriol supplementation, in addition to the gradually reduction of the proportion of elemental formula intake and the decline of the antacid doses, clinical and radiological heal was achieved.

Orthodontic treatment of a nine-year-old patient with hypophosphatemic rickets diagnosed since the age of two: A case report.

Hypophosphatemic rickets (HR) is a genetic disorder with various types of inheritance. It results mainly from defects in factors that control mineral ion homeostasis such as 1,25(OH)2D (Calcitriol) and FGF23 (Fibroblast Growth Factor 23). The existing bibliography regarding orthodontic treatment in patients with hypophosphatemic rickets is extremely limited. The aim of this case report is to describe the orthodontic treatment of a 9-year old Caucasian female patient suffering from HR. The patient presented a healthy late mixed dentition and periodontium. She suffered from a mild Class III maxillary skeletal pattern. There was a bilateral posterior crossbite, short lingual frenulum, a right maxillary mesioposition with a Class II subdivision on this side and a moderate space deficiency in the dental arches. The disorder was controlled by medication. In specific, patient was taking 1.5mL of phosphate four times per day, 0.3mL of calcitriol twice per day and 50,000 IU of Vitamin D3 on a weekly basis. Given the Class III skeletal pattern, the medical condition and the absence of relevant bibliography, it was decided to perform maxillary expansion, facemask traction and orthodontic treatment with fixed appliances. By the end of treatment, Class I canine and molar relationships were achieved, overjet and overbite were corrected and space deficiency was addressed in both arches. PAR index was 27 at the beginning of treatment and became 2 by the end of treatment (92.5% correction). The aesthetic component of IOTN was 4 and changed to 1, while the dental component used to be 5i and became 2g. With regards to retention, upper and lower fixed retainers from canine to canine and upper and lower vacuum formed appliances were used. In conclusion, a patient with controlled HR was orthodontically treated in a successful way. Orthodontic therapy was performed in a minimally invasive manner. Thus, HR does not constitute a contraindication for orthodontic treatment, when the disorder is kept under control.

Raquitismo resistente a la vitamina D / Vitamin D resistant rickets

El raquitismo dependiente de la vitamina D tipo 1 es una enfermedad rara, autosómica recesiva, causada por el defecto de la enzima 1-α-hidroxilasa, secundario a una mutación en el gen CYP27B1, que lleva a una incapacidad para convertir la 1,25(OH)2D3 a partir de la 25OHD3. Presentamos el caso ilustrativo de una lactante afectada de un raquitismo dependiente de la vitamina D tipo 1, con una mutación no descrita anteriormente y una clínica florida de raquitismo, en que la determinación de unos niveles de 1,25(OH)2D3 dentro de los límites normales puede convertirse en un factor de confusión en el proceso diagnóstico. La falta de respuesta al tratamiento con colecalciferol debe ser una señal inequívoca para sospechar un raquitismo resistente a la vitamina D. El manejo y el seguimiento del tratamiento con calcitriol en estos niños es difícil de realizar, aunque de vital importancia para evitar complicaciones a largo plazo (AU)

Vitamin D dependent rickets type I is a rare autosomal recessive disorder caused by a 1-α-hydroxylase deficiency, due to a mutation in the gene CYP27B1, that leads to an inability to convert vitamin D (25OHD3) to its hormonally active form 1,25(OH)2D3. We present the case of an infant affected by vitamin D dependent rickets type I, with a mutation not previously described, showing a huge variety of clinical features, where the determination of 1,25(OH)2D3 levels within the normal limits may be a factor for confusion in the diagnostic process. The lack of response to treatment with cholecalciferol must be a clear signal for suspecting vitamin D resistant rickets. The management and follow-up of treatment with calcitriol in these children is difficult, and of vital importance to prevent long term complications (AU)

A Practical Approach to Vitamin D Deficiency and Rickets.

Rickets is a condition in which there is failure of the normal mineralisation (osteomalacia) of growing bone. Whilst osteomalacia may be present in adults, rickets cannot occur. It is generally caused by a lack of mineral supply, which can either occur as a result of the deficiency of calcium (calciopaenic rickets, now known as parathyroid hormone-dependent rickets) or of phosphate (phosphopaenic rickets, now called FGF23-dependent rickets). Renal disorders may also interfere with the process of mineralisation and cause rickets. Only parathyroid hormone-dependent rickets and distal renal tubular disorders will be discussed in this chapter. The most common cause of rickets is still vitamin D deficiency, which is also responsible for other problems. Disorders of vitamin D metabolism or responsiveness may also cause similar issues. Distal renal tubular acidosis may also be caused by a variety of metabolic errors similar to those of osteoclasts. One form of distal renal tubular acidosis also causes a type of osteopetrosis. This chapter describes these conditions in detail and sets out a logical approach for treatment.

Hypophosphatemic rickets due to perturbations in renal tubular function.

The common denominator for all types of rickets is hypophosphatemia, leading to inadequate supply of the mineral to the growing bone. Hypophosphatemia can result from insufficient uptake of the mineral from the gut or its disproportionate losses in the kidney, the latter being caused by either tubular abnormalities per se or the effect on the tubule of circulating factors like fibroblast growth factor-23 and parathyroid hormone (PTH). High serum levels of the latter result in most cases from abnormalities in vitamin D metabolism which lead to decreased calcium absorption in the gut and hypocalcemia, triggering PTH secretion. Rickets is a disorder of the growth plate and hence pediatric by definition. However, it is important to recognize that the effect of hypophosphatemia on other parts of the skeleton results in osteomalacia in both children and adults. This review addresses the etiology, pathophysiologic mechanisms, clinical manifestations and treatment of entities associated with hypophosphatemic rickets due to perturbations in renal tubular function.