MARIA CARMELA OLIVA
RECOMBINANT HUMAN ACID ALPHA-GLUCOSIDASE ENZYME REPLACEMENT THERAPY IN NON CLASSIC INFANTILE-ONSET POMPE DISEASE (IOPD) – A SINGLE-CASE LONGITUDINAL STUDY
Autori
- MARIA CARMELA OLIVA (ASSOCIAZIONE “LA NOSTRA FAMIGLIA” – IRCCS “E. MEDEA” – SCIENTIFIC HOSPITAL FOR NEUROREHABILITATION UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), 72100 BRINDISI, ITALY – PHYSIATRIST)
- GABRIELE GIANNOTTA (ASSOCIAZIONE “LA NOSTRA FAMIGLIA” – IRCCS “E. MEDEA” – SCIENTIFIC HOSPITAL FOR NEUROREHABILITATION UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), 72100 BRINDISI, ITALY – PHYSIOTHERAPIST)
- DONATELLA DE GIOVANNI (DEPARTMENT OF METABOLIC DISEASES AND CLINICAL GENETICS, GIOVANNI XXIII CHILDREN HOSPITAL, AZIENDA OSPEDALIERO-UNIVERSITARIA CONSORZIALE, 70126 BARI, ITALY – PEDIATRICIAN)
- MARTA RUGGIERO (ASSOCIAZIONE “LA NOSTRA FAMIGLIA” – IRCCS “E. MEDEA” – SCIENTIFIC HOSPITAL FOR NEUROREHABILITATION UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), 72100 BRINDISI, ITALY – PSYCHOLOGIST)
- IVANA GALLO (ASSOCIAZIONE “LA NOSTRA FAMIGLIA” – IRCCS “E. MEDEA” – SCIENTIFIC HOSPITAL FOR NEUROREHABILITATION UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), 72100 BRINDISI, ITALY – PHYSIATRIST)
- ISABELLA FANIZZA (ASSOCIAZIONE “LA NOSTRA FAMIGLIA” – IRCCS “E. MEDEA” – SCIENTIFIC HOSPITAL FOR NEUROREHABILITATION UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), 72100 BRINDISI, ITALY – CHILD NEUROPSICHIATRIST)
- RITA FISCHETTO (DEPARTMENT OF METABOLIC DISEASES AND CLINICAL GENETICS, GIOVANNI XXIII CHILDREN HOSPITAL, AZIENDA OSPEDALIERO-UNIVERSITARIA CONSORZIALE, 70126 BARI, ITALY – PEDIATRICIAN)
- ANTONIO TRABACCA (ASSOCIAZIONE “LA NOSTRA FAMIGLIA” – IRCCS “E. MEDEA” – SCIENTIFIC HOSPITAL FOR NEUROREHABILITATION UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), 72100 BRINDISI, ITALY – PEDIATRIC NEUROLOGIST)
Presentatore
MARIA CARMELA OLIVA
Modalità
Poster Session
Abstract
“Infantile-onset Pompe disease (IOPD) is a progressive disorder, fatal without treatment. Recombinant human acid Alpha-Glucosidase Enzyme Replacement Therapy (ERT) improves survival.
We report a case of a 6-year-old male patient with CRIM-negative Non-Classic-IOPD (c.1856G>A(p.Ser619ASn), c.28001G>C and c.-32-13T>G mutation of the GAA gene in heterozygosity) diagnosed at one year. Originally he presented generalized hypotonia with axial, facial, and proximal weakness, macroglossia, microcephaly, a delay in the acquisition of motor stages, language, relational and social skills hypoevolution (risk for Autism Spectrum Disorder) diagnosis at “Toddler Module” of ADOS-2), biventricular hypertrophy on echocardiogram and periventricular leukomalacia on cranial-MR. Therefore ERT and multidisciplinar rehabilitation treatment started. During the 6 years of follow up he showed constant increase in muscle strength of the hip abductor muscles; progressive improvement in motor skills with acquisition of trunk control and standing position in the first year and walking, characterized by anserine gait, and running in the following 3 years with improvement of balance. At 5 years of age, during a period of therapy adjustments (ERT: 20 mg/kg, once every week to 38 mg/kg), extensive syringomyelia and mild respiratory failure were revealed, with substantial stability of gross motor skills except for balance worsening, probably due to increase in plantar-flexion contractures. Despite this, a constant increase in walking distance at Six-Minute Walking Test continued.
Biventricular hypertrophy and cognitive impairment remained substantially stable with significant improvements in environmental participation, social skills and communication, despite severe dysarthria. Despite progressive nature of IOPD, ERT, associated with neurorehabilitation treatment, determines clinical mild improvements/stabilization.”