Intracranial vascular calcification with extensive white matter changes in an autopsy case of pseudopseudohypoparathyroidism.

We herein report an autopsy case of a 69-year-old man with pseudopseudohypoparathyroidism. The patient suffered from mental retardation and spastic tetraparesis and had all the features of Albright's hereditary osteodystrophy with a normal response to parathyroid hormone in the Ellsworth-Howard test. Computed tomography demonstrated symmetrical massive brain calcification involving the bilateral basal ganglia, thalami, dentate nuclei and cerebral gray/white matter junctions, which was consistent with Fahr's syndrome. Magnetic resonance imaging revealed extensive white matter changes sparing the corpus callosum. Severe ossification of the posterior longitudinal ligament of the cervical spine was also demonstrated. A neuropathological examination revealed massive intracranial calcification within the walls of the blood vessels and capillaries with numerous calcium deposits. The calcium deposits aligned along the capillaries, and deposits in the vessel wall at the initial stage were confined to the border between the tunica media and adventitia. The vascular calcification in the basal ganglia continuously spread over the surrounding white matter into the cortex. The area of vascular calcification in the white matter was very well correlated with the area of the attenuated myelin staining. Axonal loss, myelin sheath loss and gliosis were observed in the white matter with severe vascular calcification. We should recognize the continuous area of vascular calcification and its correlation with extensive white matter changes as possible causes of neuropsychiatric symptoms in pseudopseudohypoparathyroidism with Fahr's syndrome.

Musculoskeletal manifestations of endocrine disorders.

Endocrine disorders can lead to disturbances in numerous systems within the body, including the musculoskeletal system. Radiological evaluation of these conditions can demonstrate typical appearances of the bones and soft tissues. Knowledge of these patterns can allow the radiologist to suggest a diagnosis that may not be clinically apparent. This review will highlight the typical musculoskeletal findings of acromegaly, hypercortisolism, hyperthyroidism, hypothyroidism, hyperparathyroidism, pseudo- and pseudopseudohypoparathyroidism, and diabetes mellitus. The radiological manifestations of each of these endocrine disorders, along with a brief discussion of the pathophysiology and clinical implications, will be discussed.

Diagnóstico por imágenes en el pseudo-pseudohipoparatiroidismo / Diagnostic imaging in pseudo-pseudohypoparathyroidism

El pseudo-pseudohipoparatiroidismo (PPHP) es una enfermedad rara, de probable origen genético sexual dominate, ligado al cromosoma X. Se la considera como una variedad normocalcémica del PHP (Pseudohipoparatiroidismo). Se describe una familia con diagnóstico clínico hormonal de PPHP. Se presentan los valores de laboratorio y la clínica de los miembros afectados. Se destaca la descripción imagenológica de las lesiones halladas, mediante TC, US y Rx simple (AU)

Pseudopseudohypoparathyroidism and spinal cord compression.

A 42 year old Greek male with pseudo-pseudohypoparathyroidism presented with difficulty in walking and with lower limb weakness. His physical signs included short stature, thick neck, short fourth metacarpals and metatarsals, and a spastic paraparesis. Serum calcium and phosphate and parathyroid concentrations were normal. Myelography demonstrated compression of the cervical and lumbar cord in association with local bony abnormalities.

[Soft tissue changes in pseudo-pseudo-hypoparathyroidism (author's transl)]. / Weichteilveränderungen bei Pseudopseudohypoparathyreoidismus.

The authors have demonstrated subcutaneous calcification which is characteristic for pseudo-pseudo-hypoparathyroidism (pph) and which is best shown by xero-radiography. If the presence of pph is suspected, or if it needs to be distinguished from some other condition, it is valuable to obtain xerograms of the soft tissues of the extremities. In pph the subcutaneous calcification is in all probability derived from the skeleton.

The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis.

The patterns of length alterations in the hand bones in cases of pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and acrodysostosis were evaluated. The length of each of the hand bones was measured and compared to appropriate means for age and sex. The pattern profiles thus generated showed that those for PHP and PPHP are almost identical, and are similar to that seen in acrodysostosis, except for the much smaller size of the bones seen in the latter condition. PHP and PPHP are probably differend manifestations of the same entity, and acrodysostosis may also be related to them. Brachydactyly E is indistinguishable radiologically from the PHP-PPHP syndrome.

Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.

The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism by the absence of endocrine abnormalities, more generalized osseous abnormalities, and a characteristic facial appearance. Two cases are presented which fulfill all of the major features of acrodysostosis: peripheral dysostosis, nasal hypoplasia (pug nose), and mental retardation. The first case had all the metabolic abnormalities of pseudohypoparathyroidism; the second case had urinary cyclic adenosine-3',5'-monophosphate findings suggestive of pseudo-pseudohypoparathyroidism. Therefore acrodysostosis cannot be differentiated from pseudohypoparathyroidism or pseudopseudohypoparathyroidism on clinical and radiologic features only.

Pseudohypoparathyroidism: a difficult diagnosis in early childhood.

We have studied one adult and three children with pseudohypoparathyroidism and observed that the physical character of short metacarpal bones is not evident in the first 4-5 years of life, that hypocalcaemia and hyperphosphataemia may be absent in the first years of life, but that the renal unresponsiveness to parathyroid hormone can still be demonstrated. Our data confirm earlier observation that in evaluating the renal responsiveness to parathyroid hormone, urinary cyclic AMP is a better parameter than urinary phosphorus. Thus in early childhood, it may be difficult to differentiate between a normal child, a child with pseudohypoparathyroidism and a child with pseudo-pseudohypoparathyroidism unless the renal parathyroid hormone responsiveness is studied.