Ottobre 2021 - Volume XL - numero 8

Medico e Bambino


Casi indimenticabili

Una mano da SHOX

Benedetta Bossini, Maria Chiara Pellegrin

IRCCS Materno-Infantile “Burlo Garofolo”, Trieste

Do not miss SHOX

Key words: SHOX, Haploinsufficiency, Dysmorphism

A gene SHOX haploinsufficiency was diagnosed in a 13-year-old girl with short stature. Madelung deformity was absent but some dysmorphism of the fingers and toes were present.

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Casi indimenticabili

Ipotono e iporeattività post-vaccino esavalente… piccoli problemi di HHE?

Elisa Pennisi1,2, Simone Fontijn1

1UOC di Pediatria e Neonatologia, Ospedale di Ravenna, AUSL della Romagna
2Scuola di Specializzazione in Pediatria, Università di Ferrara

Post-vaccination HHE: who,when,why

Key words: Hypotonia, Hyporesponsiveness, Hexavalent vaccination

The authors described the case of a two-month-old infant who presented with an episode of hypotonia and hyporesponsiveness (HHE) five hours after the hexavalent vaccination. The epidemiology, the pathophysiology and the prognosis of the HHEs are discussed.

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Casi indimenticabili

Quando lo squat fa la differenza

Margherita Piqué1,2, Luca Brasili2, Giovanni Putoto3, Lorenzo Iughetti1

1Scuola di Specializzazione in Pediatria, Università di Modena e Reggio Emilia, Modena
2Medici con l’Africa CUAMM, Ospedale di Tosamaganga, Iringa, Tanzania
3Medici con l’Africa CUAMM, Padova

Fallot’s tetralogy and squatting position

Key words: Tetralogy of Fallot, Tet spells, Respiratory distress

The paper presents the case of a 1-year-old girl with severe respiratory distress, perioral cyanosis and severe desaturation (SpO2 35% with oxygen in nasal prongs). An echocardiogram was readily performed showing the distinctive features of Fallot’s tetralogy. The child was placed in a squatting position (knee-chest position). Subcutaneous morphine at a dose of 0.2 mg/kg, bolus of physiological solution in 30 minutes and therapy with oral propanolol were administered, with progressive clinical improvement. Subsequently, corrective cardiac surgery was performed with regular postoperative period and following good clinical conditions. Cardiogenic causes must be considered among the causes of respiratory distress especially in low resource countries where congenital heart disease can be misdiagnosed or diagnosed belatedly

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