Vitamin D Deficiency Rickets Mimicking Pseudohypoparathyroidism

Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Journal of Clinical Research in Pediatric Endocrinology 12/2010; 2(4):173-5. DOI: 10.4274/jcrpe.v2i4.173
Source: PubMed

ABSTRACT Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary hyperparathyroidism and decreased serum 25−hydroxyvitamin D (25(OH)D) levels. In stage 1 VDDR, urinary amino acid and phosphate excretion are normal with minimal or no findings of rickets on radiographs. Pseudohypoparathyroidism (PHP) is an inherited disorder characterized by end−organ resistance to parathormone (PTH). VDDR occasionally resembles PHP type 2 in clinical presentation and biochemical features, creating difficulties in the differential diagnosis of these two entities. Here we report an infant diagnosed with VDDR. In addition to inadequate vitamin D intake, usage of antiepileptic drugs (AED) may have led to the worsening of the vitamin D deficiency. The patient presented with a history of febrile convulsions, for which he received phenobarbital treatment. The initial findings of hypocalcemia, hyperphosphatemia and normal tubular reabsorption of phosphate, mimicking PHP 2, responded well to vitamin D and oral Ca treatment with normalization of serum Ca, phosphorus (P), ALP and PTH levels
Conflict of interest:None declared.

  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Pseudohypoparathyroidism type 1a (PHP1a) is characterised by hypocalcaemia and hyperphosphataemia due to parathyroid hormone (PTH) resistance, in association with the features of Albright Hereditary Osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, which is encoded by a complex imprinted locus termed GNAS. Paternally inherited mutations can lead either to Pseudopseudohypoparathyroidism (PPHP) characterised by AHO alone, or to Progressive Osseous Heteroplasia (POH), characterised by severe heterotopic ossification. The clinical aspects and molecular genetics of PHP1a and its related disorders are reviewed together with the 343 kindreds with Gs-alpha germline mutations reported so far in the literature. These 343 (176 different) mutations are scattered throughout the 13 exons that encode Gs-alpha and consist of 44.9% frameshift, 28.0% missense, 14.0% nonsense, and 9.0% splice-site mutations, 3.2% in-frame deletions or insertions, and 0.9% whole or partial gene deletions. Frameshift and other highly disruptive mutations were more frequent in the reported 37 POH kindreds than in PHP1a/PPHP kindreds (97.3% vs. 68.7%, p<0.0001). This mutation update and respective genotype-phenotype data may be of use for diagnostic and research purposes and contribute to a better understanding of these complex disorders.This article is protected by copyright. All rights reserved
    Human Mutation 01/2015; 36(1). DOI:10.1002/humu.22696 · 5.05 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: IntroductionThe respective roles of hypocalcemia and intracerebral calcifications in the occurrence of various neurological manifestations in hypoparathyroidism is not entirely clear. Nevertheless, therapeutic and prognostic implications are important.Objectives We analyze the neurological clinical aspects observed in hypoparathyroidism and correlate them to the biological calcium abnormality and radiological CT scan findings. We also compare these results with data reported in the idiopathic form of striatopallidodentate calcinosis.PatientsThe neurological clinical, CT scan findings and outcome have been retrospectively studied in patients recruited during 13 years (2000–2012) for neurological features associated with hypoparathyroidism or pseudohypoparathyroidism.ResultsTwelve patients with primary hypoparathyroidism (n = 5), secondary to thyroidectomy (n = 4) and pseudohypoparathyroidism (n = 3) were studied. The sex-ratio was 1 and mean age was 39 years. All patients had a tetany, 60% had epilepsy, associated in one patient with “benign” intracranial hypertension; 50% had behavioral changes. Response to calcium therapy was excellent for all these events. Moderate cognitive deficit was noted in three patients (25%), parkinsonism in two patients and hyperkinetic movement disorders in one other. These events were not responsive to calcium therapy and were more common in cases of extensive brain calcifications and in patients who had pseudohypoparathroidism.CommentsThis study suggests that, in patients with hypoparathyroidism, epilepsy and psychiatric disorders are induced by hypocalcemia and reversible after its correction. Cognitive and extrapyramidal impairment seem to be related to the progressive extension of intracerebral calcification, particularly in patients with a late diagnosis. In patients with pseudohypoparathyroidism, this finding is different because of the contribution of other factors, specific to this disease.
    Revue Neurologique 06/2013; 169(s 6–7):495–501. DOI:10.1016/j.neurol.2012.11.005 · 0.60 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The aims of this study were to evaluate serum vitamin D levels in cases of recurrent otitis media and investigate the effect of vitamin D therapy on the risk of re-occurrence of the disease. This prospective study was performed by comparing serum vitamin D levels in children with recurrent otitis media and healthy children. Eighty-four children between 1 and 5 years of age and diagnosed with recurrent otitis media were enrolled as the study group. One hundred-and-eight healthy children with similar demographic characteristics were enrolled as the control group. Patients were divided into groups according to their serum 25(OH) vitamin D levels. In patients with low initial serum vitamin D levels, vitamin D therapy was administered in addition to conventional treatment for otitis media. Mean serum 25(OH) vitamin D level in the study group was 11.4 ± 9.8 ng/mL Serum 25(OH) vitamin D levels were below 20 ng/mL in 69 % (n = 58) of cases in this group. In the control group, mean serum 25(OH) vitamin D level was 29.2 ± 13.9 ng/mL and was below 20 ng/mL in 30 % (n = 32) of cases. Comparison of serum 25(OH) vitamin D levels and PTH in the study and control groups revealed a statistically significant difference (p < 0.05). Treatment was initiated in cases diagnosed with vitamin D deficiency, and patients were followed up in due course. The only episodes detected over the course of 1-year follow-up were one attack in five patients and two attacks in two. We believe that co-administration of supplementary vitamin D together with conventional treatments is appropriate in the management of upper respiratory infections such as otitis media.
    Archives of Oto-Rhino-Laryngology 03/2013; 271(4). DOI:10.1007/s00405-013-2455-7 · 1.61 Impact Factor

Preview (2 Sources)

Available from