Cystinosis and a Dissecting Aortic Aneurysm in a 7-Year-Old Boy

Abstract

i-PTH in idiopathic or postsurgical hypoparathyroidism is not unusual8-9 and probably reflects the apparent lack of correlation between detectable immunoreactivity of circulating PTH or its fragments and parathyroid activity. It seems that detectable i-PTH does not exclude biological hypoparathyroidism and requires careful interpretation in conjunction with additional studies. Urinary c-AMP excretion (during hypocalcemia) in my patient (3.90 Mmole/g of creatinine) was within the reported normal range for normocal¬ cemic children of similar age (4.67 µ ß^o f creatinine ± 1.05 SD)1" or adults (4.34^mole/g of creati¬ nine ± 1.25 SD,10 4.39 /tmole/g of cre¬ atinine ± 0.29 SEM") but much lower than in cases of nonhypoparathyroid hypocalcemia in our (7.00 to 8.50 µ ß^o f creatinine) and other's experience (5.8 /¿mole/g of creati¬ nine ± 0.60 SEM, 5.62 /imole/g of cre¬ atinine ± 0.69 SEM11). Thus, c-AMP excretion during the hypocalcémie stage of rickets tends to be 1.5to several-fold higher than during normocalcemia (after ergocalciferol ther¬ apy) in the same subjects.1·11·1-This increased c-AMP excretion was not observed in hypocalcémie subjects with surgical (3.00 µ -nole/g of creati¬ nine ± 0.20 SEM,13 3.24 ftmole/g of creatinine ± 0.07 SEMS), idiopathic (3.50 umole/g of creatinine ± 0.40 SEM,11 4.50^m ole/g of creatinine9), or pseudohypoparathyroidism (3.20 Mmole/g of creatinine ± 0.30 SEM11), and in my patient, presumably re¬ flecting deficient PTH secretion or action. It should also be mentioned in this context that the average baseline c-AMP excretion in the case of pseudoidiopathic hypoparathyroidism6 re¬ ported in nmole/min (3.2) was similar to that of my patient (3.1 nmole/min).The calculation of "renal c-AMP,"8 ie, total urinary c-AMP less filtered c-AMP ( = plasma c-AMP creatin¬ ine clearance), may prove to be helpful in the differentiation of hypocalcémie states once more data are available.

Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine

“…These lesions might explain brain atrophy and progressive encephalopathy as in the case of older patients with diffuse arteriosclerosis who develop pseudo-bulbar palsy. In addition to microvascular lesions, large-vessel involvement has also been reported in cystinosis (Strayer 1979) and this may be the cause of other types of cerebral complications, as in patient 5 of the present report, who developed hemiplegia and aphasia and in whom postmortem examination showed lesions of both large and small vessels.…”

Hypertensive emergency associated with thoracoabdominal aneurysm: Case report and review

“…In the pediatric population, the differential diagnosis of aortic aneurysms is broad (Table 1) (8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24). Prior case series have discussed the etiology of abdominal aortic aneurysms in pediatric patients, but in this case, the diagnosis does not seem to fit neatly into any of the categories previously published, which include the causes listed in this report (25).…”

Short‐cut diagnostic tool in cystinosis: Bone marrow aspiration

“…Myocardial cystine deposition has been reported in the literature . There is also a report of cardiomyopathy caused by cystinosis and dissecting aortic aneurysm in a 7‐year‐old boy . There are four NC case reports associated with coronary artery dilatation .…”

“…[23][24][25] There is also a report of cardiomyopathy caused by cystinosis and dissecting aortic aneurysm in a 7-year-old boy. 26 There are four NC case reports associated with coronary artery dilatation. 27 The myocardium and vessels can be affected by long-standing hypertension, uremia, altered calcium-phosphorus metabolism due to renal osteodystrophy, large arteriovenous fistulae, renal transplantation, drugs and infection, 25 but the association between NC and coronary artery dilatation has not been clarified as yet.…”