Università degli Studi di Bari “Aldo Moro”
Scuola di Specializzazione in Pediatria
Coordinatrice: Prof.ssa P. Giordano
The use of Sirolimus in Diffuse Lymphangiomatosis.
Domenico Martinelli, Delia De Mattia, Grazia Ladisa, Nicola Laforgia
Generalized lymphangiomatosis is an extremely rare
condition with clinical features depending on the extent
of involvement.
After 30 days of therapy, a second NMR was done that
showed volumetric regression of cervical , hepatic and
mesenteric lesions. At 76 days of life she was discharged
in good condition and started outpatient follow-up to
check clinical status and perform all controls for Sirolimus
therapy: (routine blood test and blood level of the drug).
At the moment, at six month of life, she is still receiving
Sirolimus, with blood level between 8-10 mcg/L with non
side effects. Non cystic lesions are evident and her clinical
and neurological examination is perfectly normal.
This is the first case of Diffuse Lymphangiomatosis in
newborn, treated with Sirolimus with complete
resolution of the disease.
We report the case of a single female newborn (EG:
37weeks, APGAR 9-10) delivered by
spontaneous vaginal birth
She was transferred to our NICU because of left
laterocervical mass. The rest of the clinical exam was
unremarkable. Ultrasound revealed a left
laterocervical lymphangioma. Routine lab exams
were normal, as well as urine VMA and enolase.
Alpha-fetoprotein (AFP) serum was 2638.9 ng/mL.
Sonographic evaluation of brain and kidneys was
also normal. At eight days of life she presented
cough, fever and significant dyspnea and required
mechanical ventilation. Routine blood tests showed
leukocytosis (30110 / mm3 with 88% neutrophils),
and positive C-reactive protein (35mg/mL).
Antibiotic therapy (Ampicillin/Sulbactam and
Amikacine) was promptly started. Total body NMR
revealed the presence of diffuse lymphatic cysts at
neck, mediastinum, liver (third segment) and bones
(femur). The first choice of therapy was Propranolol:
at 2mg/kg /day and after 9 days at 4 mg/kg/day.
After one week, because of no response, therapy
with Sirolimus was started at 0.8mg/m2 twice daily
and, after 9 days, at 0.4mg/m2, with progressive and
significant reduction of the laterocervical mass and
of all cystic lesions by ultrasonography.
ONSP DAYS
Sez. Neonatologia e Terapia Intensiva Neonatale
Direttore: Prof. Nicola Laforgia
Congresso Osservatorio Nazionale
Specializzandi in Pediatria
PAVIA , 17 – 20 SETTEMBRE 2014