ESPE Abstracts

Mosaic variegated aneuploidy (MVA) syndrome represents a rare autosomal recessive disease characterized by aneuploidies with gain and loss of multiple chromosomes. We describe case of two Moroccan brothers with MVA2, due to CEP57 mutations. Patients are 17 and 13-year-old male siblings of a Moroccan healthy consanguineous couple. Oldest brother was delivered at 35 gestational weeks after IGR diagnosis, small for gestational age (SGA, 1300 grams, -3 SDS). Younger patient’...

Six-year-old female, diagnosed with GH deficiency at another Center (H: -3.13SDS; H peak with clonidine 5.7ng/mL, with insulin 1.2ng/mL). Brain MRI at diagnosis: small pituitary gland, ectopic neurohypophysis, normal stalk, right internal carotid artery aplasia. At 10 years onset of polyuria-polydipsia syndrome (PPS) (4L/day–154ml/kg/die); mood disorders and ADHD diagnosis were also reported. A fluid deprivation test was performed, lasting 22 hours (pre: S-Osm 275mOsm/L,...

Although craniopharyngiomas are low-grade tumours, long-term survivors frequently suffer from severe morbidity due to hypothalamic lesions, such as hypothalamic obesity, that is largely resistant to lifestyle modification and pharmacotherapy. We investigated the efficacy of bariatric surgery in two patients with craniopharyngioma-related hypothalamic obesity during 18 months of follow-up. Patient n1, diagnosed with craniopharyngioma and treated with complete surgical excision ...

A 5-years-old boy was admitted because of polydipsia and polyuria. His family history was unremarkable. After water deprivation test (10h), laboratory test showed high levels of serum sodium (150.1 mmol/L), low urine osmolarity (88 mOsm/kg) and high serum osmolarity (301 mOsm/kg) consistent with the diagnosis of central diabetes insipidus (CDI). He started therapy with oral desmopressin with clinical improvement. Brain MRI revealed pituitary stalk thickening (3 mm), no hyperin...

Pituitary stalk interruption syndrome (PSIS) can be classified as a form of holoprosencephaly. The sonic hedgehog signaling (SHH) has a key role in central nervous system midline development. GLI2 is a transcription factor of SHH pathway. GLI2 pathogenetic variants show phenotypic variability and nonpenetrance. We present a female patient born at 37+1 weeks of gestation from moroccans non-consanguineous parents. Unicogenic. Polihydramnios, urogenital sinus, palatal and lip cle...

Septo-optic dysplasia (SOD) is characterized by optic nerve hypoplasia, hypothalamic-pituitary axis dysfunction and brain’s midline structures defects. His clinical features are heterogeneous. They consist mainly in visual impairments, endocrine dysfunction, cognitive and neurological abnormalities. We present a patient of 6 years old, affected by SOD, central diabetes insipidus, central hypothyroidism and growth hormone deficiency (GHD). She was born at 40+2 gestational...

Male, aged 6 years 3 months, recently moved from Peru, was admitted for suspected syndromic obesity. His medical history was unremarkable; no documented neonatal hypoglycemia or prolonged jaundice. Independent walking was achieved at 3 years and meaningful words at 2. Physical examination: height 99.2 cm (-3.57 SDS), -2.8 SDS below target height, BMI 27.43 kg/m2 (2.47 SDS); his weight has increased since the age of 4. Peculiar somatic characteristics were observed - saddle nos...

Female, 7-year-old, presented with a 6-months history of headaches and right ptosis, with a sudden worsening associated with projectile vomiting. Height 141 cm (2.67 SDS), weight 44.35 kg (1.98 SDS). She presented with enlarged hands and feet, diastema, broad nasal bridge, prominent nasal septum, low-set ears and coarse facial features. Brain MRI revealed a 22 × 25 × 40 mm pituitary mass with a suprasellar extension compressing the optic chiasm and invading the cav...

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...