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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

COMPANY UNIVERSITY POLICLINICO

DEPARTMENT OF CLINICAL PEDIATRIA

Pediatric Clinical Genetics

Diagnosis: Syndrome Keppen Lubinsky

Elements anamnestici and major clinical problems. The clinical picture of Daniele is characterized by: generalized lipodystrophy, severe mental retardation, spastic tetraplegic. On 10-7-2002 has undergone surgery for retraction of the tendons of the lower limbs at the Baby Jesus Hospital in Rome. At that shelter are made the following surveys: Mineralometria Ossea computerized (osteoporosis), rx basin (pronounced valgismo cervical-cefalico and cervical-diafisario, a marked rise of right femur, left defect coverage of the femoral head by the corresponding acetabular roof), ultrasound abdomen (apparent greater representation of fatty tissue around the great vessels abdominal). Since 2003 hydrotherapy practice with improvement of  the hypertone muscle and of the bones. During the periods Day Hospital admissions in the Field of Pediatric Clinical Genetics Department of Pediatrics, University Federico II of Naples has practiced the following surveys: EMA (absent), IgA (0.81 Member), EEG (electrical activity widely badly organised with aspects of suffering-irritation in the left temporal), ABR (hearing within the limits of normal). Advice of urology 13-12-2004: two episodes of acute urinary retention solved spontaneously, probably secondary to a lack of central control on detrursore and on the sphincter. Advice neurological of 5-12-2005: the hypertone persist and dysfunction, sleep is of short duration with an awakening early in the morning.

Main elements of the clinical

Weight 17 kg, height 120 cm, c.c. 51.5 cm. Grave lipodystrophy Ipertono flexion of the upper and lower limbs. Activities cardiorespiratory regular FC 100bpm, FR 40a/min. Hypochondriac organs within the limits.

Conclusions

Daniele presents a serious generalized lipodystrophy associated with a severe developmental delay psychomotor, clinical elements that constitute the framework for syndrome Keppen Lubinski. Since December reported frequent awakening night with drowsiness during the day. Consistent with what suggested by neuropediatra specialist, Dr. XXX, you change therapy as follows: Valium gtt: 6 gtt afternoon, 15 hours 21.00; gtt Triptych: 6 gtt afternoon, 10 hours 22.30, Lioresale half cpr in the morning, half in the afternoon, an evening Continued follow-up at the Field of genetic Pediatric Clinic, next appointment in Day Hospital scheduled for 22-6-2006.