A case of severe type of cerebro-costo-mandibular syndrome.

Introduction: Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder, with only 75 cases described in the literature to date. CCMS is characterized by association of micrognathia and specific multiple rib defects. It is accompanied by mental deficiency in considerable number of cases. Sometimes, there are associated anomalies and problems, such as spine deformities, brain, heart, kidney or ear anomalies, feeding difficulties, delayed psychomotor development, and growth impairment. Depending on severity of deformities and consecutive respiratory insufficiency, in about 35­50% of CCMS cases, death occurs during the first year of life. These cases are referred to as severe types of CCMS. Case Outline: In this paper we present a female infant with severe type of CCMS. Diagnosis was established in the first day of life, based on micrognathia and findings of posterior rib-gap defects on the chest X-ray, accompanied by dyspnea. Progressive severe respiratory insufficiency caused by chest and air-way deformities and exacerbated by episodes of pneumonia, led to respiratory failure and death at the age of 7.5 months. Conclusion: CCMS should be considered in every infant with micrognathia and rib-gap defects on chest X-ray.

Factors given by birth and oxygen therapy in relation to development of retinopathy of prematurity.

INTRODUCTION: Retinopathy of prematurity is a disease of the eye which affects the blood vessels of the retina and represents the most important cause of blindness and low vision in children worldwide. There are many risk factors given by birth and parameters of general health status that may influence this disease. The aim of this study was to investigate the significance of the factors given by birth and use of oxygen in relation to the development of premature retinopathy. MATERIAL AND METHODS: A two-year-long prospective study was done at the Institute for Child and Youth Health Care of Vojvodina. In this study the following parameters were examined: weight, gestational age as a factor given by birth and parameters of oxygenotherapy--the number of days on oxygenotherapy and the number of days of mechanical ventilation. The findings on the eye fundus were also taken into consideration. RESULTS: The test results suggest that the gestational age is the most important factor given by birth which determines the possibility of development of premature retinopathy. CONCLUSION: In fact, the most important risk factor for the development of premature retinopathy is premature birth.

Atypical intrauterine parvo b19 infection.

Human parvovirus B19 is a single-stranded DNA virus. During pregnancy, parvovirus B19 infection can be asymptomatic or cause a variety of signs of fetal damage, fetal anemia, nonimmune hydrops fetalis, spontaneous abortion and can result in fetal death. Recent improvements in diagnosing parvovirus infections and the availability of intrauterine transfusion have reduced the overall rate of fetal loss after maternal exposure. There is an approximately 30% risk of vertical transmission and 1% of hydrops. We report of the first case of vertical parvovirus B19 infection with atypical manifestations in our clinic. The neonate had pleural effusion associated with anaemia.

Acute osteomyelitis and septic arthritis of the shoulder in premature neonates--report of two cases.

Acute hematogenous osteomyelitis and septic arthritis are pyogenic infections of bone and joint, respectively. At the youngest age, they usually occur at the same time--hence the common name "osteoarthritis". When it comes to neonates, osteoarthritis is an infrequent finding, but it can give a permanent disability and can be even fatal unless early recognized and adequately and promptly treated. An early diagnosis is rather challenging because the signs and symptoms of this disease are subtle and/or nonspecific. The therapy involves a combination of intravenous antimicrobial therapy in high doses and of sufficient duration, with a mandatory decompression of affected joint by needle aspiration or artrhrotomy. The aim of this paper is to present two premature newborns with rare localization of osteoarthritis - the humerus and shoulder joint, as well as to point to the modern diagnostic and therapeutic approach to this disease.

Neurosensory outcome of prematurely born children following intracranial haemorrhage.

INTRODUCTION: More and more survival of newborns with small or extremely small body mass at birth, as well as increasing percent of prematurely born babies, have emphasized the significance of intracranial haemorrhage problem. Prematurely born infants are under increased risk for strabismus, amblyopia, blinding and hearing loss. OBJECTIVE: Establishing the frequency of sensory damages (damage of sight and hearing) in prematurely born infants with various degrees of intracranial haemorrhage. METHODS: The study is prospective, controlled and included 120 prematurely born infants with diagnosed four different grade intracranial haemorrhage on ultrasonic examination of the central nervous system. The study excluded prematurely born children from twin pregnancies with congenital malformations and stoppage of intrauterine growth. Ophthalmological examination was done at 9, 12, and 36 months of postnatal age. Audilogical examination was done after delivery, at 2 months of age. RESULTS: There are stasistically significant differences (p < 0.01) related to the presence of strabismus among groups of examinees with various haemorrhage degrees. Strabismus was present only in one premature infant with 1st and in 10 children (33.3%) with the 4th degree. Amblyopia occurred only among examinees with 4th degree haemorrhage.There were statistically significant differences (p < 0.01) related to the finding of transitory otoacoustic emission of the left ear and the right ear among the groups. The finding of the right ear was not usual in 7 examinees from the 4th degree haemorrhage. The finding of the left ear was not usual in 1 examinee from the third and in 7 examinees from the fourth group. CONCLUSION: Prematurely born children with a higher degree intracranial haemorrhage have a greater risk for the loss of hearing and development of visual handicap.

[Neonatal withdrawal syndrome--case report].

INTRODUCTION: Maternal drug abuse has increased over the past decade. It has a multiple negative influence on a pregnant woman, as well as her newborn. Practically, every drug taken during pregnancy crosses the placenta, and the developing fetus may also be affected by the effects of a drug. After delivery, an infant of a drug-abusing mother may potentially develop neonatal withdrawal syndrome. Existing studies on the neonatal effects of drug exposure in utero are subject to many factors. Many studies have relied on the history obtained from the mother, which is innacurate. Urine testing for drug abuse does not reflect exposure to a drug through pregnancy and does not provide quantitative information. Social and economic deprivation is common among drug abusers, and this factor has a major effect on long term studies of infant outcome. The purpose of this article is to underline the problems during management of a neonatal withdrawal syndrome, and growing incidence of it in our society. CASE REPORT: A case of an infant of a heroin-abusing mother is reported. CONCLUSION: It is very important to take care of an infant with neonatal withdrawal syndrome, but it is also of a great importance to supervise these children for a long period of time.

[Mode of delivery and neurosonographic findings in premature infants].

INTRODUCTION: Fetal and preterm infant brain is especially vulnerable to hemorrhagic and ischemic damage at the end of the second and at the beginning of the third trimester. This is due to vascular, cellular and anatomic characteristics of the brain during development. In premature babies, there is a physiological instability and limited autoregulation of cerebral circulation. Hemorrhagic and ischemic damages often occur together, though pathophysiological processes leading to lesions are different. MATERIAL AND METHODS: The paper deals with a detailed analysis of 860 ultrasound brain scans of prematurely born children. The examinations were performed at the Ultrasound Department of the Institute of Child and Youth Health Care in Novi Sad. 707 vaginally born premature infants and 153 premature infants born by Cesarean section were examined The bleeding was graded according to the Papile classification. RESULTS AND DISCUSSION: Out of 384 children with diagnosed grade I hemorrhage, 75 premature infants (19.5%) were born by Cesarean section. In the group of children with grade II hemorrhage, operative deliveries account for 14.7%. From the total of 85 children with grade III hemorrhage, (intraventricular bleeding with chamber dilatation), only 6 premature infints were born by Cesarean section (7%). Intra-parenchymal bleeding was diagnosed in a very small number of premature infants: 0.32% of all diagnosed hemorrhages were grade IV hemorrhages. In this group there were no children born by Cesarean section. The increase of hemorrhage grade is accompanied by a greater rate of pelvic presentation and manual assistance by Bracht. There were 240 prematurely born children with no echosonographicallY diagnosed hemorrhage, 38% of all examined premature infants. From this number, 13.3% of neonates were born by Cesarean section. CONCLUSION: In the etiology of neonatal intracranial hemorrhage, especially prematurely born ones, apart from the trauma, which plays a major role, other factors are also important, above all fetal distress, perinatal hypoxia and junctional immaturity of all organs.

[Arthrogryposis multiplex congenita--a rare congenital stiff joints syndrome].

INTRODUCTION: Arthrogryposis multiplex congenita is not a disease but a term describing multiple congenital contractures. Etiological factors include neurological and primary myogenic diseases. This rare syndrome is present at birth and is characterized by reduced mobility of many joints. The contractures involve two or more joints with ankylosis. The accompanying musculature is hypoplastic, but multiple pterygia are also present. Arthrogryposis multiplex congenita is a heterogeneous group of disorders with the incidence rate of 6.2/100000 liveborn infants. The true incidence cannot be established, because many cases result in spontaneous miscarriages or stillbirth. More than 90% of cases are associated with birth defects. The cause of this syndrome is unknown. Many forms are not hereditary, though there are hereditary forms as well. CASE REPORT: This paper presents a case with arthrogryposis multiplex congenita. The pregnancy was not controlled regularly. During the pregnancy, oligohydramnion was detected. Due to contractures, labor ended is cesarean section. The child was born in the 34th week of gestation. Flexion and extension joint contractures were observed. Active and passive mobility of the afflicted joints was reduced. There was a limited motor function in the shoulder, elbow and wrist joints with a slight internal rotation of the shoulder joint and lower arm joints during pronation. The hips were subluxated; the feet were in equinovarus position and the fingers in ulnar deviation with partial syndactyly of the 4th and 5th fingers on the left hand. The infant had abnormal dermatoglyphics. The neck was short, and the 2nd and 3rd cervical vertebrae were fused. There was also a slight left-sided thoracic scoliosis. Trismus was present due to the existing ankylosis of the temporomandibular joint. The karyotype was normal. The serum creatinine phosphokinase was slightly elevated The electromyographic picture indicate non-specific signs of myopathy. DISCUSSION AND CONCLUSION: This is a case report of a "stiff joint syndrome". Due to the fact that data from the family history were unavailable, we could not establish the type of syndrome. However, heredity, growth and development at later age, as well as IQ, might significantly help in definite differentiation of this syndrome. In pregnancy, oligohydramnion should indicate more detailed ultrasonographic examination, as ankylosed joints can be detected in utero.

[Agenesis of the corpus callosum in a premature infant associated with Langdon-Down syndrome].

INTRODUCTION: Agenesis of the corpus callosum is an abnormality of the part of the brain connecting the two cerebral hemispheres. It can be partial, complete or atypical. The fibers from the cerebral cortex project towards the homotypical region of the contra-lateral cortex passing through the corpus callosum, and crossing the middle line. The absence of corpus callosum causes failure of information transfer from one hemisphere to the other. Children with this anomaly present with learning disabilities and trouble with memorizing facts. Agenesis of corpus callosum may be of syndromic or non-syndromic type. The more common form is the one not associated with any syndrome. The agenesis of corpus callosum is more frequent in male children. CASE REPORT: This paper presents a child from a twin pregnancy with partial absence of corpus callosum. The pregnancy was not controlled. It ended in premature birth. The afflicted twin is a boy, second in birth order. Apart from agenesis of corpus callosum, he also suffers from Down syndrome. The first twin is healthy, with corpus callosum and with normal karyotype. There was no consanquinity. In the 6th month of pregnancy the mother suffered from infection of the upper respiratory tract that might be the etiological factor of this anomaly. The child was born with hypotrophy, and all anthropometric parameters were below the third percentile. In the neonatal period, the agenesis of corpus callosum was diagnosed by ultrasonic examination and confirmed by CT and MR examinations. The child is now three and a half month old. Active monitoring of the psychical and motor development will show whether there will be any retardation in the psycho-motor development and later deficiency of the higher corticalfunctions and intelligence. DISCUSSION AND CONCLUSION: The clinical characteristics of this anomaly are numerous. They range from asymptomatic cases, with normal intellectual capacity, to severe mental retardation. Radiological and genetic markers cannot make a difference between the asymptomatic and symptomatic characteristics of the disease. Therefore, it is very difficult to give genetic advice if the diagnosis is made prenatally. This part of the central nervous system is very well visualized by ultrasonic examination, thus in the absence of corpus callosum a special attention must be paid to other parts of the central nervous system, for diagnosing associated anomalies. If the diagnosis of agenesis of corpus callosum is made prenatally by ultrasound, a MR examination is advised for diagnosing other anomalies, especially in the central nervous system like lissencephalia, schizocephalia or heterotopia of the gray matter, where MR examination is superior to others.

[An ultrasound protocol in premature infants with intracranial hemorrhage].

INTRODUCTION: Prematurity is a great health problem in our country and in the world. There are more than 11% of premature births in America annually, and in Europe this rate is between 5-10%. In Vojvodina, 9% of babies are born prematurely. Intracranial hemorrhage takes a sifnificant place in the morbidity of prematurely born children. INTRACRANIAL HEMORRHAGE IN PREMATURE NEWBORN INFANTS: Incomplete CNS development of premature infants causes numerous complications, but it is also the factor which enables survival of extremely immature infants without sequelae. The management protocol depends on the level of hemorrhage. Early diagnosis of intracranial hemorrhage and determination of the level of hemorrhage are of utmost importance for disability prevention. ULTRASOUND IN MONITORING INTRACRANIAL HEMORRHAGE: Brain monitoring of prematurely born babies is performed by ultrasound. This type of visualization has several advantages over other techniques: it is mobile, so colled "bedside technique", it is relatively cheap, it may be repeated several times, it is possible to define the exact time of hemorrhage and monitor its absorption from day to day. Ultrasound is safe, and there is no ionized radiation. No sedation is required for ultrasound examination. The examination is not painful. CONCLUSION: The frequency of ultrasound depends on the level of hemorrhage, presence or absence of ventriculomegally/hydrocephalus, as well as on the surrounding cerebral parenchyma.