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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.

PEDIATRIC DEPARTMENT - II Facoltà di Medicina e Chirurgia - Naples

Subject: Observation of 22 May 1993 for dysmorphic facies and suspected accumulation disease.

CASE HISTORY

He was born with an emergency Caesarean section for fetal suffering (Apgar 1’6, 5’7), after a regular pregnancy. Weight 3.400 Kgs ( 50°-75° P), length 50 cms, head measurement 34 cms.

When he was born, he has been transferred to the II Policlinico to check out his facial dysmorphism, poliidramnios in the patient, with suspected accumulation disease. The baby has been initially feeded by gavage for his difficulty in suction. His clinic conditions improved progressively. The followings are the clinic exams to which he has been subjected during his stay in the hospital:

• ECG = regular.
• Cardio Ultrasound Scanning= situs solitus. Levocardia. Consistency atrio ventricular and arterial ventricle. Regular contractility, regular metricflow observation.
• Ophtalmological advice and eye ground = regular.
• Transfontanellare ultrasound = regular.
• Standard cariotipo exam= 46 XY apparentely there are no chromosomic abnormality, neither quantitative or qualitative.
• Insulintest, oligotest, aminoaciduria, GH, hPRL, TSH= regular.
• Chest x-rays= heart’s volume is into the max limit of the standard with accentuated convexity of the ventricular arc.
• Skeleton x-rays= stocky appereance of the back cranial fossa everything else is in the standards.
• Cranial CAT scan= soft asymmetry of the silviana cistern.
• Dermatological advice= dystrophic look is strictly district and located only in the facial region, it puts down for a skeleton muscle- skin district dystrophy.
• Endocrine advice= dosage recommended for GH, hPRL, TSH besides glycaemia and insulin test because of the glycaemia distorted values. Glycaemia at the beginning was softly high and then it came back in the standards. The baby has been discharged in good general health conditions.

FAMILY HISTORY

No contribution are in the family history. His mother has been examined in the II Policlinic to make sure she hadn’t any autoimmune disease, which she had not.

OBJECTIVE EXAM

Age 4 days, weight kg 3,400 (50 ° -75 ° O), length cm 50 (25 ° -50 ° P), circ. cranial 34 cm (between media and-2DS). Facies characterized by adherence of skin tissue to bone below with apparent absolute absence of tissue

Subcutaneous and muscle in particular in the area periorbitaria, periorale and level nose and chin. Overlap of the bones of the skull, old appearance, stretched out eyes, hypoplastic wings of the nose, slight gingival hyperplasia. Attitude “clenched hand” in their hands. Nothing pathological borne by other bodies or equipment.

DEBATE

The dysmorphic notes found to target small Daniele (overlapping bone of the skull, stretched out eyes , hypo plastic wings of the nose, micrognathia, mild gingival hyperplasia, old aspect, apparent lack of subcutaneous tissue in some areas of the face) does not seem to be classified in a syndrome known.

The case of little Daniele was also discussed with experts from diseases dysmorphic both Italian and foreigners, without arriving at a precise definition diagnostics. In the differential diagnosis were taken into account and still excluded:

1. Donohue syndrome or Leprecaunismo for facial dysmorphism and acknowledgment of hyperglycemia. The surveys we recommended to exclude glicidico metabolic abnormalities present in this syndrome were normal.

2. Lipodystrophy partial to significantly abnormal facial lipoatrophy and subcutaneous tissue. There are, however, present in small clinical signs typical of this syndrome (alterations eye type Rieger, diabetes) (MIM 151680).

3. Accumulation diseases, the reason why was reported to our observations, in particular a mucolipidosi II, which can have a very early onset. The notes dysmorphic, except gum hypertrophy, however, does not seem to fall within the framework of this syndrome.

4. Costello Syndrome for the presence of facial dysmorphism in some cases early and suggestive of diseases by accumulation. Again, however, the clinical picture is not compatible with that diagnosis. It could be helpful in an assessment of the small Daniele time in order to monitor the psychomotor development and possible evolution of notes dysmorphic found.