Diffuse alveolar haemorrage as initial presentation of systemic lupus erythematosus: a case report.

Diffuse alveolar haemorrhage (DAH) is a rare life-threatening complication of systemic lupus erythematosus (SLE), associated with high mortality rates. It usually occurs in patients with an established diagnosis of SLE. It has been reported as the initial presentation of SLE in 11-20% of cases. It occurs most frequently in females. We describe the case of a child, aged 14 years, with fever, asthenia, haemoptysis, dyspnea, anaemia, increased inflammatory markers, positivity to ANA, nDNA, direct Coombs tests, anticardiolipin antibodies and complement factors consumption. Computed tomography (CTscan) of the chest showed bilateral pulmonary alveolar infiltrates. He also developed renal involvement with nephritis later in the course of the disease. He was started on the treatment approved by the Euro Lupus Protocol for critical patients. After starting Mycophenolate Mofetil the clinical and radiological features were improved as was the survival outcome.

Severe Hypernatremia as Presentation of Netherton Syndrome.

Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies. We report the case of a 1-month-old male infant evaluated for failure to thrive and feeding difficulties. At birth, the infant was admitted to intensive care for severe hypernatremia (natremia 186 mg/dL). Upon entering the ward, the general conditions were poor. He presented with diffuse erythrodermia. A dermatological evaluation showed evidence of "invaginated trichuriasis," a typical sign of Netherton syndrome. Netherton syndrome is caused by a genetic mutation causing loss of function of the SPINK5 gene it encodes for the LEKTI protein, normally expressed in epithelia. Loss of LEKTI induces severe skin barrier defect. The history of the disease is characterized by serious potential complications in the first months of life, such as the risk of hypernatremic dehydration induced by high skin permeability, recurrent and/or severe infections, and growth retardation.

A case of postvaricella cerebral angiopathy with a good outcome in a child.

Cerebral vasculopathy is a serious but uncommon complication of varicella-zoster-virus (VZV) infection. Diagnosis is based on a recent history of VZV infection, signs and symptoms of transient ischemic attack or stroke, and vascular anomalies on neuroimaging. We report a case of postvaricella cerebral angiopathy in a 5-year-old child, who was admitted after three episodes of transient right hemiplegia, each one lasting a few minutes. He had contracted chicken pox, the month prior to admission. Brain magnetic resonance imaging showed hyperintense signals in the left lenticular and caudate nuclei, which can be considered to be a result of vasculopathy.

Holoprosencephaly (lobar form) associated with bilateral vocal cord palsy.

There have been many causes associated with bilateral vocal cord palsy, both congenital and perinatal. Until now, the main congenital causes of bilateral vocal cord palsy have been associated with meningomyelocele, Arnold-Chiari malformation, and hydrocephalus. We report a patient with bilateral vocal cord palsy associated with the lobar form of holoprosencephaly. In this case, bilateral vocal cord palsy was caused by the disruption of the cortical laryngeal motoneurons. Neonatal stridor must be carefully evaluated by the neonatologist to exclude severe cerebral anomalies.

Familial osteoma of the cranial vault.

A case of solitary osteoma of the parietal skull is described in a mother and her 12-year-old son. There were no other craniofacial or dysmorphic features and there was no history of previous cranial trauma or inflammatory process and no radiographic evidence of other skeletal lesions in both patients. Family history was otherwise unremarkable. Gardner syndrome was ruled out by excluding other associated clinical abnormalities and by family history. The clinical and radiological features of the patients' osteomas were different from those of Albright hereditary osteodystrophy, fibrodysplasia ossificans progressiva, progressive osseous heteroplasia and familial ectopic ossification. To the author's knowledge this is the first case of the familial presentation of osteomas.

Caudal regression syndrome and annular pancreas: a rare association.

A female infant with caudal regression syndrome and annular pancreas is described. This is the first time this association appears to have been described.

Tuberculosis of the ankle in childhood: clinical, roentgenographic and computed tomography findings.

We report on three Italian children who presented with unilateral ankle tuberculosis (TB) consecutively during a short time period and in the same geographical area. A 6-year-old-girl with a family history of TB had limited mobility of the right leg at age 9 months; Mantoux test and radiographs at that age yielded normal findings. When severe right tibiotarsal swelling, reddening, pain and restriction of motion became apparent at age 4.6 years, the typical lesions of TB were evident on radiographs and computed tomographic (CT) scans. Mantoux test and synovial biopsy confirmed TB. A three-drug regimen of treatment proved useless: articular cartilage destruction and diffuse osteosclerosis ensued. Only a four-drug prolonged regimen of treatment proved to be somewhat effective. A 5-year-old girl had a 6-month history of painless swelling and limited mobility of the ankle; radiographs and CT showed osteopenia with marginal erosion of cartilages. A 14-month-old boy presented with a 2-week history of painless swelling ankle. Radiographs showed decreased bone density of talocalcanear bones. Mantoux test and synovial biopsy confirmed TB in both patients; treatment with a three-drug regimen greatly reduced symptoms. A careful suspicion of the diagnosis of tuberculosis is paramount in children with chronic or subacute monoarticular arthritis, even in absence of a positive tuberculin test or abnormalities on chest radiograph. When negative early on, the tuberculin test should be repeated after 6 weeks of arthritis, and a needle biopsy of the synovium is required in those children with monoarticular arthritis and a positive tuberculin test. Careful therapy is necessary to avoid sequelae that may lead to severe osteoarticular damage.

[Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood]. / Il coinvolgimento cardiaco nell'atrofia muscolare spinale progressiva. Revisione della letteratura e contributo casistico in età pediatrica.

There are few cardiological studies in progressive spinal muscular atrophy and mainly concern subjects affected by the juvenile form (Kugelberg-Welander disease). The presence of a cardiomyopathy has been reported in these patients but the cardiac involvement is often secondary to the chronic respiratory insufficiency typical of the disease. We performed a retrospective study in our Institute on 43 patients, age range 3 months to 3 years, 37 of which presented type I (Werdnig-Hoffmann disease) and 6 type II (intermediate form) of the disease. No clinical nor instrumental signs of cardiomyopathy were observed. However, ECG revealed signs of right ventricular overload in 37.3% of the patients, probably provoked by pulmonary hypertension due to respiration anomalies. The authors underline the importance of correct respiratory assistance to prevent onset of cardiological alterations.

[Recurrent facial paralysis in a child with renovascular hypertension]. / Paralisi ricorrente del facciale in un bambino affetto da ipertensione renovascolare.

Hypertension is rarely observed in childhood. The renal diseases are the most common causes of this condition. Headache, seizures, cranial nerve palsy and hemiplegia are the most frequent neurological manifestations. The Authors report on a patient with a severe involvement of central nervous system due to renal hypertension. The main clinical features were recurrent episodes of facial nerve palsy.

[The VACTERL association: a report of a clinical case with hepatic cystic lymphangiectasis]. / Associazione VACTERL: descrizione di un caso clinico con linfangectasia cistica epatica.

VACTERL association includes three or more of the following six anomalies: V (vertebral anomalies), A (anal atresia), C (cardiac abnormalities), TE (tracheo-esophageal fistula and/or esophageal atresia), R (reno-urinary anomalies) and L (limb defects). VACTERL cases are classified as "associated" when other than the typical six defects are present in the same infant, or "isolated" when they are not. We report a case of VACTERL association "associated" that presents an hepatic cystic lymphangiectasia that was never described before in literature. We also consider the most important factors involved in the aetiology of the typical anomalies.

Bickerstaff's brainstem encephalitis (BBE) in childhood: rapid resolution after intravenous immunoglobulins treatment.

Three young patients with Bickerstaff's brainstem encephalitis (BBE) are reported. Some weeks following an upper tract infection, the children after a short period of recovery, showed acute onset of symmetric weakness of the lower limbs with difficulty in standing by and walking. The distal muscle weakness had a rapid progression with involvement of the cranial nerve, and then with severe impairment of the consciousness till to coma in one of the three children. BBE is a rare and often underdiagnosed affection in childhood. Common neuro-immune pathogenesis, overlap of clinical signs and strict correlation among BBE with Fisher syndrome and Guillain-Barrè syndrome lead to think that these affections represent an unique spectrum with different central and peripheral involvement. In these children, treatment with intravenous immunoglobulins resulted in a progressive and rapid resolution of the clinical features.

Brain ultrasound features in multiple births due to spontaneous conception compared with assisted reproductive techniques: a cross-sectional, population-based study.

AIM: Multiple pregnancies from spontaneous conception and obtained by assisted reproductive techniques (ART) are associated with a disproportionate share of complications compared with natural singleton pregnancies. The outcome of multiple pregnancies obtained by ART is still the subject of controversial opinions in the medical literature as they are associated with increased rates of perinatal complications, and perinatal mortality, as well as maternal complications. Aim of this study was to determine whether there are differences between these two groups of infants. METHODS: We examined the imaging findings by means of brain ultrasound (performed at birth and sequentially up to their 6th month of age) in a cohort of 296 twins and triplets born following different techniques of assisted fertilization (63 pregnancies; 119 neonates) vs. spontaneous conception (94 pregnancies; 177 neonates). RESULTS: We did record, by means of X square corrected test, statistically significant differences (P=0.002) between the two populations at birth in the number of normal ultrasound scans (ART

[Esophageal atresia and malformative association. Clinical contribution]. / Atresia esofagea e patologia malformativa associata. Contributo casistico.

AIM: Esophageal atresia (EA) is a congenital malformation with an incidence of 1/3,000-3,500 live birth, due to anomalies of the foregut. Although an interstitial deletion of chromosome 17 (q22q23.3) has been identified, the etiology seems to be multifactorial and not only genetic. The aim of this retrospective study is to evaluate the association of EA with chromosomal pathologies and/or malformation syndromes. METHODS: The authors report 18 cases of EA admitted to the UTIN of the Pediatric Department, University of Catania, between January 1998 and January 2001, and discuss the phases of preoperative stabilization, the operation, postoperative complications and the follow-up at 12 months. RESULTS: The results obtained concerning the association of EA with chromosomal diseases and malformation syndromes are described in the ''Results'' section of the paper. CONCLUSIONS: The results obtained, notwithstanding the low number of patients, show that the association of EA with chromosomal pathologies and malformation syndromes is relevant both from a numerical and prognostic point of view in comparison to the data published in the literature.

Neonatal hypophosphatasia and seizures. A case report.

Hypophosphatasia is a rare genetic disease characterized by deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity, excessive urinary excretion of phosphoethanolamine, poor bone mineralization and skeletal anomalies. The shortage of alkaline phosphatase (ALP) alters the process of mineralization of skeleton causing a reduced transformation of phosphoethanolamine into phosphatidylethanolamine (cerebral phospholipid) with consequent high serum and urinary levels of phosphoethanolamine, a sensitive and highly specific marker for the disease. Four clinical forms have been described based on the age of onset with different courses and prognoses. An unusual case of lethal perinatal hypophosphatasia associated with seizures observed in a newborn admitted to Neonatal Intensive Care Unit of the University of Catania is described.

[Cerebral venous sinuses thrombosis in an infant with supramitral obstructive membrane associated with partial anomalous pulmonary venous return]. / Trombosi dei seni venosi cerebrali in un lattente con membrana sovramitralica ostruttiva associata a ritorno venoso polmonare anomalo parziale.

Cerebral venous thrombosis is quite rare in newborn infants, but probably its incidence is not well evaluated because clinical signs and cerebral echocardiography are not specific. We report the case of an newborn infant with massive cerebral venous thrombosis associated with heart malformation: supramitral ring and partial anomalous pulmonary venous connection in the superior vena cava.

Aneurysmal bone cyst of the acromion: a case report.

The case of 6-year-old girl with an asymptomatic aneurysmal bone cyst of the acromion is reported. Such tumors are rarely located in the scapula and are especially rare in the acromion. The diagnosis was confirmed by biopsy and surgical resection of the lesion. Roentgenographic, CT and histologic features of the cyst are discussed.

Primary osteoma cutis--multiple café-au-lait spots and woolly hair anomaly.

An 11-year-old girl with typical features of primary osteoma cutis is reported. She demonstrated multiple areas of subcutaneous, asymptomatic, slow-growing nodules, mostly localized at the extremities. Radiographic evidence of soft tissue calcification and histologic confirmation of ectopic bone formation was obtained. She also showed café-au-lait spots, woolly hair and intrauterine growth deficiency.

[Renal artery stenosis in pediatric age. Clinical and instrumental observations of two patients]. / Stenosi dell'arteria renale in età pediatrica. Dati clinici e strumentali su due pazienti.

Two male patients, four and six years old, affected with monolateral renal artery stenosis are reported. One of them presented recurrent facial nerve palsy, while the other was affected by renal calculosis. The diagnostic suspicion was confirmed by arteriography. They were submitted respectively to aortorenal bypass and nephrectomy, with blood pressure normalization.