Daniele Fiorenza Home Page

 Note: Daniele’s diagnosis have been translated from Italian to English by me, Sara, and I’m not a doctor, if you are a doctor though of course you can translate those better than me, just feel free to send it to our mail mail@danielefiorenza.com, we will be glad to modify them for the best.

NAPLES’ UNIVERSITY FEDERICO II

DEPARTMENT OF PEDIATRIA

SPECIALISTIC UNION OF GENETIC AND METABOLIC DISEASES

Upgrading of epicrisi Fiorenza Daniele, born 18.5.93, suffers from generalized lipodystrophy, tetraplegic spastic and severe mental retardation, seizures (suspected Wiedemann syndrome-Rautenstrauch).

Raccordo anamnestico: patient of 8 years and 7 months in follow-up at our Department since’93. In that time the little was sent to our observation by SAAN for the presence of facial dysmorphism (overlapping bone of the skull, eyes protrudenti, hypoplastic nasal wings, micrognathia, mild gingival hyperplasia, old aspect, apparent lack of subcutaneous tissue in some areas face) and suspected accumulation disease. During the follow-up of Daniele, confirmed suspicion of S. Rautenstrauch of Wiedemann.

Since the early years of life Daniele FKT practice.

During the checks in DH latest made:

6.12.00 Rx chest: serious asymmetry in the fields marked lung for scoliosis right convex dorsal spine. Marked thinning of the ribs, especially the front arches on the right. Heart rotated on the major axis, volumetric within the limits.

6.12.00: ECG: normal

11.12.00 MRI brain: normal and lateral ventricles into place. 3 rd and 4 th ventricle on the median line. Regular spaces subaracnoidei of time and of the base. Absence of areas of altered signal parenchimale.

26.6.01 EEG: brain electrical activity devoid of disease-specific.

For the presence of seizures the patient is treated with Valium and pharmacology Lioresal; however in recent times there has been an inadequate control of absences that seem to be more evident in the case of deprivation from sleep.

Consideration goal on the DH, 4.12.01.

Weight 13 kg <5 ° PC.

Tetraparesi spastic and RSPM serious. Lipodystrophy widespread, particularly evident in the face, if you appreciate a superficial venous grid. Mucose undamaged. Activities and regular cardiac rhythm (FC 110 bpm). At the thoracic auscultation coarse noises transmitted from high streets. Testes palpable in the scrotum. PH1.

At the lower limbs will appreciate a serious imbalance of even with a posture of thighs weakly bended also on the thighs and legs with a rotation on the right.

Laboratory tests: VES 5, PCR 0.3, in accordance with CBC, CK 511, CK BB 0% 0% MB CK, CK MM 100%, sideremia 26 ug / dl, ferritin 3, biochemical profile normal.

Therapy present:

• Valium gtt: 3-gtt 5gtt-5 gtt / day
• Lioresal cp: 1 / 2 cp to 3 times per day

Given the low levels of sideremia is added in therapy

• Ferinsol gtt: 25 gtt x 2/day

Conclusion: patient with lipodystrophy generalized tetraplegic spastic, RSPM serious, with severe clinical picture, compatible with the Wiedemann syndrome-Rautenstrauch. It is considered appropriate to continue therapy in place pharmacology and physiotherapy underway.

Follow-up

DH cardiologic scheduled for 10/04/02.