Situs inversus viscerum is a rare congenital anomaly (incidence 1/15–20 000) in which organs are mirrored from their normal positions. It is called situs inversus viscerum totalis when there is a total transposition of abdominal and thoracic viscera. Incomplete situs inversus viscerum involves transposition only of abdominal organs and is more frequently associated with congenital cardiac defects (90%–95% vs 5%–10% in situs inversus totalis). About 25% of individuals with situs inversus have an underlying condition known as Kartagener Syndrome. As a result of benign pathology, patients with situs inversus viscerum can live normal healthy lives. Situs viscerum inversus can be associated with defects in various organ systems (respiratory, GI tract, genitourinary). In literature there’s evidence of cases of situs inversus associated with renal malformations (dysplasia, hypoplasia, ectopia, polycystic kidney, horseshoe kidney). Association with renal agenesis is rare. We report the case of S., born at 40 weeks, eutocic delivery. APGAR 8/9, weight 3350 g. Normal fetal US. In the third day of life, heart sounds better heard on the right side of the chest. Cardiac US: situs inversus viscerum, dextrocardia, subaortic stenosis, restrictive ventricular septal defect, atrial septal defect ostium secundum. In the fourth day of life, abdominal US findings were suggestive of right renal agenesis. In the 20th day of life, right reducible inguinal hernia. The little patient underwent cystography, negative for vesicoureteral reflux, and static renal scintigraphy with evidence of absent activity in right renal space. Renal function, cerebral US, audiologial assessment and karyotype were normal. No respiratory distress reported. Mucociliary clearance test and a regular follow-up are scheduled.

Unilateral renal agenesis (incidence of 1/500–1000 newborns), can be isolated or associated with other urological/extra-urological abnormalities. Unilateral renal agenesis (URA) may be suspected after a renal US and confirmed by static renal scintigraphy. We describe 3 cases among the 1299 children born in our Centre in the first half of 2015. S., born at 40 weeks, eutocic delivery. APGAR 8/9, weight 3350 g. In the third day of life a diagnosis of situs inversus viscerum totalis, subaortic stenosis, restrictive ventricular septal defect and atrial septal defect ostium secundum has been made. In the fourth day of life, abdominal US findings were suggestive of right renal agenesis. The patient underwent cystography, negative for reflux, and static renal scintigraphy which confirmed diagnosis. Renal function, cerebral US, audiologial assessment and karyotype were normal. M., born at 27,5 weeks by C-section, APGAR 6/8, weight 1240 g. Mother with gestational diabetes. In the first day of life, patent ductus arteriosus and patent foramen ovale were detected. After 2 months US before discharge revealed right renal agenesis. Cystography was negative and renal scintigraphy confirmed diagnosis. B., born at 34,6 weeks by eutocic delivery. APGAR 7/8, weight 2240 g. As an imperforate anus was detected, the patient underwent renal US which revealed pyelectasis and empty left renal space. Diagnostic management was incomplete because the patient was transported to another Health Care Centre.

A Sudden Visual LossWe admitted to our department M., a 8 years old girl, for sudden bilateral vision loss. The onset of visual symptoms had been preceded by an important and self-healing headache. A bilateral papilledema was detected, with the evidence of a severe impairment of visual acuity. Laboratory blood tests were normal, except for ANA positivity. Optic nerve transorbital sonography and Brain Magnetic Resonance (MRI) revealed bilateral thickening of the optic nerves in the retrobulbar tract. The Cerebrospinal Fluid (CSF) examination was normal and the oligoclonal bands were negative. Serology tests revealed Anti-MOG antibodies negativity, while anti-AQP4 antibodies were positive. Based on clinical, laboratory and MRI findings, diagnosis of Optic Neuromyelitis (NMO) was made. NMO is an inflammatory demyelinating disease of the Central Nervous System (CNS), based on an autoimmune pathogenesis. It is traditionally characterized by optic neuritis and transverse myelitis. First line therapy is based on high dose pulse steroids; in case of treatment failure, second-line therapy with Therapeutic Plasma Exchange (TPE) can be proposed.

We describe the case of a 9-year-old male patient who was admitted for seventh cranial nerve palsy occurred after seven days of frontal headache. The emergency cranial CT scan was negative. For the persistence of symptoms and the onset of vomiting and nystagmus we performed encephalic contrast MRI and MR angiography. The MRI findings were consistent with the McDonalds radiological diagnostic criteria for Multiple Sclerosis (MS), confirmed by the oligoclonal bands positivity in cerebrospinal fluid (CSF). In childhood MS is a rare disease and the clinical onset is variable. Seventh cranial nerve palsy is a very rare first clinical sign of MS and the association between MS and seventh nerve palsy have been rarely reported in literature. As evident in our case, seventh cranial nerve palsy, particularly when associated with other neurological signs and symptoms, should not be underestimated by the clinicians.

A.L., chronological age: 6.5 years old (bone age: 3.5 years old). Dysmorphic facies with hypertelorism, saddle nose, broad forehead, pointed chin. Only child, born at 41 weeks of regular pregnancy, eutocic delivery, small for gestational age (weight: 2030 g), left preauricolar appendage. At birth: direct hyperbilirubinemia, elevated serum GGT, pulmonary artery branches stenosis. Falling rate of bilirubin until normalisation after 6 months, with lab evidence of cholestasis (elevated serum GGT, bile acids and cholesterol) and hypertransaminasemia. At 4 years and 2 months old, because of a growth failure (weight and height are less than the 3rd percentile, bone age of 2 years and 9 months, non-responder to arginine-clonidine provocative test, normal female karyotype), undergo hormonal therapy for 12 months, with a catch-up growth. Clinical examination: spleen palpable 2 cm below the costal margin, mesocardiac 1/6 systolic murmur. Hypertransaminasemia (AST 100 U/L, ALT 125 U/L), lab evidence of cholestasis (serum GGT 261 U/L, cholesterol 227 mg/dl and bile acids 24.8 µmol/l), mild conjugated hyperbilirubinemia (0.45 mg/dl), elevated serum alkaline phosphatase (900 U/L) and alpha-amylase (131 U/L). Abdominal US: dilated intrahepatic bile ducts under Glisson’s capsule. Distended gallbladder. Splenomegaly (11 cm interpolar diameter). Cardiac US: patent arterial duct. Ophthalmological examination: incomplete posterior embryotoxon. Fundus oculi examination: persistent myelination, excavation of the optic disk. No vertebral anomalies. Possible diagnosis: Alagille Syndrome, confirmed by genetic testing and liver biopsy (cholestasis and paucity of the interlobular biliary ducts). The estimated incidence of Alagille syndrome is 1 in 70 000 newborns per year. A diagnosis of Alagille Syndrome may be suspected when 3 of 5 major clinical signs are present (distinctive facial features, intrahepatic cholestasis, pulmonary artery branches stenosis, posterior embryotoxon, butterfly shaped vertebrae or hemivertebra). Treatment is non-specific and includes carbohydrates, medium-chain triglycerides and vitamin supplementation. The disease usually stabilises between ages 4 and 10 years. Liver transplantation may be necessary for patients with refractory disease.