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1.
Glob Med Genet ; 10(4): 335-338, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38025195

ABSTRACT

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.

2.
Lupus ; 27(3): 507-510, 2018 Mar.
Article in English | MEDLINE | ID: mdl-28592199

ABSTRACT

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.


Subject(s)
Hemorrhage/diagnostic imaging , Lung Diseases/diagnostic imaging , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Pulmonary Alveoli/pathology , Adolescent , Drug Therapy, Combination , Hemorrhage/etiology , Humans , Lung Diseases/drug therapy , Lung Diseases/etiology , Lupus Erythematosus, Systemic/drug therapy , Male , Mycophenolic Acid/therapeutic use , Tomography, X-Ray Computed
3.
J Pediatr Neurosci ; 10(2): 156-8, 2015.
Article in English | MEDLINE | ID: mdl-26167223

ABSTRACT

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.

4.
Eur Rev Med Pharmacol Sci ; 18(17): 2496-9, 2014.
Article in English | MEDLINE | ID: mdl-25268095

ABSTRACT

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.


Subject(s)
Brain Stem/pathology , Encephalitis/drug therapy , Immunoglobulins, Intravenous/therapeutic use , Brain Stem/drug effects , Child , Child, Preschool , Encephalitis/diagnosis , Encephalitis/pathology , Female , Humans , Infant , Male , Seizures/etiology
5.
Minerva Pediatr ; 66(1): 17-22, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24608578

ABSTRACT

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

Subject(s)
Echoencephalography , Fertilization , Pregnancy, Multiple , Reproductive Techniques, Assisted , Cross-Sectional Studies , Female , Humans , Infant, Newborn , Multiple Birth Offspring , Pregnancy
6.
Minerva Pediatr ; 57(5): 289-96, 2005 Oct.
Article in Italian | MEDLINE | ID: mdl-16205614

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple , Chromosome Aberrations , Esophageal Atresia/complications , Esophageal Atresia/surgery , Down Syndrome/complications , Esophageal Atresia/classification , Esophageal Atresia/diagnostic imaging , Esophageal Atresia/genetics , Follow-Up Studies , Forearm/abnormalities , Gestational Age , Heart Defects, Congenital/complications , Humans , Infant, Newborn , Kidney/abnormalities , Postoperative Complications , Prognosis , Pylorus/abnormalities , Radiography , Retrospective Studies , Syndrome , Tetralogy of Fallot/complications , Time Factors , Treatment Outcome
7.
Minerva Pediatr ; 57(5): 319-23, 2005 Oct.
Article in English | MEDLINE | ID: mdl-16205618

ABSTRACT

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.


Subject(s)
Hypophosphatasia/complications , Infant, Premature, Diseases , Seizures/etiology , Chromatography, Ion Exchange , Ethanolamines/blood , Ethanolamines/urine , Humans , Hypophosphatasia/blood , Hypophosphatasia/diagnosis , Hypophosphatasia/mortality , Hypophosphatasia/urine , Infant , Infant, Newborn , Male
8.
Minerva Pediatr ; 57(2): 111-6, 2005 Apr.
Article in Italian | MEDLINE | ID: mdl-15986003

ABSTRACT

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.


Subject(s)
Heart Defects, Congenital/diagnosis , Pulmonary Veins/abnormalities , Sinus Thrombosis, Intracranial/etiology , Adolescent , Child , Child, Preschool , Electrocardiography , Heart Defects, Congenital/complications , Humans , Infant , Magnetic Resonance Imaging , Male , Mitral Valve Insufficiency/etiology , Sinus Thrombosis, Intracranial/diagnosis
9.
Minerva Pediatr ; 54(2): 153-60, 2002 Apr.
Article in Italian | MEDLINE | ID: mdl-11981530

ABSTRACT

Between 1998 and 2000, four newborns have been observed for laryngeal stridor occurred some hours after birth. Otorhinolaryngologic examinations, as well as cardiac, neuroradiologic and serologic investigations have been performed to formulate the diagnosis and verify the etiology. The fiberoptic laryngoscopy showed a bilateral paralysis of the vocal cord in two newborns, a monolateral paralysis of the left vocal cord in another and in the last one, instead, a bilateral cordal hypomobility. The follow-up performed till the age of one year showed a complete remission of the symptomatology in two newborns, respectively in the one with monolateral paralysis and in the other affected by hypomobility of the vocal cords; of the two newborns with bilateral paralysis, instead, one is dead because of Haemophilus Influenzae epiglottitis, three weeks after discharge without physicians' consensus, while in the other patient, affected by lobar holoprosencephaly, it was necessary to perform a tracheotomy because of a severe obstructive apnea. The lobar holoprosencephaly, is a cerebral malformation characterized by the partial separation of the cerebral hemispheres, and it is described for the first time associated with bilateral vocal cords paralysis.


Subject(s)
Vocal Cord Paralysis , Humans , Infant, Newborn , Male , Vocal Cord Paralysis/diagnosis , Vocal Cord Paralysis/therapy
10.
Minerva Pediatr ; 53(4): 359-65, 2001 Aug.
Article in Italian | MEDLINE | ID: mdl-11573071

ABSTRACT

Three patients with neonatal thrombosis of the middle cerebral artery are described. In two patients the thrombosis was secondary to neonatal asphyxia. The third patient had a porencephalic cyst twenty days after birth suggesting a prenatal origin of the thrombotic event. The follow-up was carried out for two years. In the first year, two patients had infantile spasms and hyparrhythmic pattern of EEG. This type of epilepsy has never been previously reported. Futhermore, all three patients presented hemiplegia and reduction of cranial circumference. The neuroradiologic procedures showed to be very useful for the diagnosis and long term follow-up. These patients must be followed carefully since the development of a subsequent epilepsy is reported to be approx 11%.


Subject(s)
Intracranial Thrombosis/diagnosis , Female , Follow-Up Studies , Humans , Infant, Newborn , Time Factors
11.
J Child Neurol ; 16(12): 932-4, 2001 Dec.
Article in English | MEDLINE | ID: mdl-11785509

ABSTRACT

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.


Subject(s)
Holoprosencephaly/complications , Vocal Cord Paralysis/complications , Female , Functional Laterality/physiology , Humans , Infant, Newborn , Vocal Cord Paralysis/physiopathology
12.
Clin Dysmorphol ; 9(4): 293-4, 2000 Oct.
Article in English | MEDLINE | ID: mdl-11045590

ABSTRACT

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


Subject(s)
Abnormalities, Multiple/pathology , Pancreas/abnormalities , Spinal Cord/abnormalities , Abnormalities, Multiple/genetics , Female , Humans , Infant, Newborn , Sacrum , Syndrome
13.
Minerva Pediatr ; 52(1-2): 55-62, 2000.
Article in English, Italian | MEDLINE | ID: mdl-10829593

ABSTRACT

The vein of Galen aneurysmal malformation (VGAM) is a rare cerebro-vascular disorder in neonates. It is characterized by an abnormal direct communication between one or several cerebral arteries and the vein of Galen. It may appear in the neonatal period or afterwards. Three cases of patients affected by VGAM with different clinical expression are presented. Two of them were treated successfully with endovascular embolization. It was not possible to provide the same treatment to the third patient for an intractable congestive heart failure already existing when VGAM was diagnosed.


Subject(s)
Cerebral Veins , Intracranial Aneurysm/diagnosis , Intracranial Arteriovenous Malformations/diagnosis , Cerebral Angiography , Cerebral Veins/diagnostic imaging , Cerebral Veins/pathology , Embolization, Therapeutic/methods , Humans , Infant, Newborn , Intracranial Aneurysm/therapy , Intracranial Arteriovenous Malformations/therapy , Magnetic Resonance Imaging , Male , Tomography, X-Ray Computed , Ultrasonography
15.
Neuropediatrics ; 30(5): 264-7, 1999 Oct.
Article in English | MEDLINE | ID: mdl-10598838

ABSTRACT

We report on two infants with primary unilateral thalamic hemorrhage which occurred at two months of age. Both infants were normal prior to the onset of hemorrhage. Both children presented with seizures and subsequently developed epilepsy. These cases suggest that primary unilateral thalamic hemorrhage can occur in seemingly well infants outside the neonatal period.


Subject(s)
Intracranial Hemorrhages/diagnosis , Thalamus , Electroencephalography , Female , Functional Laterality , Humans , Infant , Magnetic Resonance Angiography , Magnetic Resonance Imaging , Male , Thalamus/blood supply , Thalamus/diagnostic imaging , Thalamus/pathology , Tomography, X-Ray Computed
16.
Minerva Pediatr ; 50(5): 187-92, 1998 May.
Article in Italian | MEDLINE | ID: mdl-9842216

ABSTRACT

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.


Subject(s)
Renal Artery Obstruction/diagnosis , Angiography/methods , Child , Child, Preschool , Fibromuscular Dysplasia/diagnosis , Humans , Hypertension, Renal/diagnosis , Magnetic Resonance Imaging , Male , Tomography, X-Ray Computed
17.
Pediatr Med Chir ; 20(3): 223-6, 1998.
Article in Italian | MEDLINE | ID: mdl-9744019

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple/diagnosis , Liver Diseases/diagnosis , Lymphangiectasis/diagnosis , Abnormalities, Multiple/pathology , Fatal Outcome , Female , Humans , Infant, Newborn , Kidney/pathology , Liver/pathology , Liver Diseases/congenital , Liver Diseases/pathology , Lymphangiectasis/congenital , Lymphangiectasis/pathology , Syndrome
18.
Br J Radiol ; 71(842): 225-8, 1998 Feb.
Article in English | MEDLINE | ID: mdl-9579189

ABSTRACT

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.


Subject(s)
Osteoma/genetics , Parietal Bone , Skull Neoplasms/genetics , Adolescent , Adult , Female , Humans , Male , Osteoma/diagnosis , Skull Neoplasms/diagnosis
19.
Clin Pediatr (Phila) ; 36(9): 529-34, 1997 Sep.
Article in English | MEDLINE | ID: mdl-9307087

ABSTRACT

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.


Subject(s)
Ankle Joint/diagnostic imaging , Tuberculosis, Osteoarticular/diagnostic imaging , Arthritis/complications , Arthritis/diagnosis , Arthritis/diagnostic imaging , Arthritis/drug therapy , Biopsy , Child , Drug Therapy, Combination , Female , Humans , Infant , Isoniazid/therapeutic use , Male , Osteomyelitis/diagnosis , Osteomyelitis/drug therapy , Osteomyelitis/etiology , Pyrazinamide/therapeutic use , Radiography , Rifampin/therapeutic use , Tomography, Emission-Computed , Tuberculosis, Osteoarticular/complications , Tuberculosis, Osteoarticular/diagnosis , Tuberculosis, Osteoarticular/drug therapy
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