[Maternal vitamin B12 deficiency: cause for neurological symptoms in infancy]. / Mütterlicher Vitamin-B12-Mangel: Ursache neurologischer Symptomatik im Säuglingsalter.

BACKGROUND: Symptoms of Vitamin B (12) deficiency in infancy include growth retardation, regression of psychomotor development, muscular hypotonia and brain atrophy. Besides an inappropriate vegetarian diet of the infants, a vegan diet or a pernicious anaemia of the mother may lead to an insufficient vitamin B (12) supply of the child. PATIENTS AND METHODS: We report here the neurological symptoms of 4 fully breast-fed infants from mothers on vegan diet or with pernicious anaemia. DISCUSSION AND CONCLUSION: Vitamin B (12) deficiency can easily be diagnosed by detection of methylmalonic acid when measuring the organic acids in urine. Vitamin B (12) deficiency should be avoided or diagnosed as early as possible since a supplementation of mother and child can prevent neurological symptoms of the baby. Furthermore, the neurological symptoms of the infant with manifest vitamin B (12) deficiency are (partially) reversible.

Epidermal naevus and segmental hypermelanosis associated with an intraspinal mass: overlap between different mosaic neuroectodermal syndromes.

UNLABELLED: The epidermal naevus syndrome is a neurocutaneous syndrome characterised by the association of epidermal naevi with central nervous system, skeletal, ocular or cardiovascular abnormalities. We report on a 1.75-year-old boy who presented with spastic diparesis, a partial paresis of the left forearm and macrocephaly. He had a large epidermal naevus along the cervical spine and a segmental hypermelanosis. MRI studies revealed a large intraspinal mass extending from the lower cervical to the upper thoracic spine. The condition of our patient demonstrates the overlap of the epidermal naevus syndrome with well-defined mosaic neuroectodermal phenotypes such as encephalocraniocutaneous lipomatosis, Feuerstein-Mims syndrome and Proteus syndrome. CONCLUSION: we recommend evaluation of all patients with large epidermal naevi, especially in the head and neck region, for the presence of central nervous system abnormalities or neoplasms.

Some hypothalamic hamartomas contain transforming growth factor alpha, a puberty-inducing growth factor, but not luteinizing hormone-releasing hormone neurons.

Activation of LH-releasing hormone (LHRH) secretion, essential for the initiation of puberty, is brought about by the interaction of neurotransmitters and astroglia-derived substances. One of these substances, transforming growth factor alpha (TGFalpha), has been implicated as a facilitatory component of the glia-to-neuron signaling process controlling the onset of female puberty in rodents and nonhuman primates. Hypothalamic hamartomas (HH) are tumors frequently associated with precocious puberty in humans. The detection of LHRH-containing neurons in some hamartomas has led to the concept that hamartomas advance puberty because they contain an ectopic LHRH pulse generator. Examination of two HH associated with female sexual precocity revealed that neither tumor had LHRH neurons, but both contained astroglial cells expressing TGFalpha and its receptor. Thus, some HH may induce precocious puberty, not by secreting LHRH, but via the production of trophic factors--such as TGFalpha--able to activate the normal LHRH neuronal network in the patient's hypothalamus.

Submental and diaphragmatic muscle activity during and at resolution of mixed and obstructive apneas and cardiorespiratory arousal in preterm infants.

Pathomechanisms involved in obstructive apneas remain obscure. Apnea arousal failure has been proposed as a cause for sudden death during sleep. The present study hypothesizes an interdependency between upper airway dilating submental muscle electromyogram (EMG) activity (EMGsub), diaphragmatic muscle activity (EMGdia), incidence of bradycardia, and transcutaneous measured PO2 (tcpO2) upon termination of apnea. Polygraphic recordings, including surface EMG (EMGsub, EMGdia), EEG, ECG, and transcutaneous PO2/PCO2 (tcpO2/tcpCO2) were performed on 10 preterm infants at 36, 40, 44, and 52 wk of conceptional age. EMGsub increased initially, then decreased in 28 of 33 non-rapid eye movement (N-REM) sleep apneas (REM: 35 of 69 events). This correlated with a decrease of tcpO2 during N-REM sleep (p < 0.05). A parallel decrease of EMGsub and EMGdia was correlated with the occurrence of bradycardia (REM and N-REM: p < 0.01). Concomitant termination of apnea and bradycardia (n = 22), occurred in the presence of a phasic, simultaneous activation of EMGsub and EMGdia in 64% of REM sleep and in 79% of N-REM sleep-related event, was characterized by a deep inspiration preceded by a short expiration, and correlated with the extent of tcpO2-decline during REM sleep apneas (p < 0.05). In one apnea with bradycardia that progressed to asystolia, this mechanism was missing, but was evoked by a slight tactile stimulation, where-upon cardiorespiratory functions were immediately reestablished whereas N-REM sleep continued uninterrupted. Our data demonstrate an interdependency between changes of EMGsub and EMGdia activity, tcpO2 decline, and occurrence of bradycardia. A "cardiorespiratory arousal" terminated apneas and bradycardia without a change in sleep phase.

[Traumatic dislocations of the cranial spine in childhood. Clinical description of 2 cases]. / Traumatische Luxationen der kranialen Halswirbelsäule im Kindesalter. Klinische Beschreibung von zwei Fällen.

Case reports are presented on 2 children who had suffered traumatic luxations in the region of the cranial cervical spine. In both children, there was interruption of spinal cord continuity by severance with respiratory arrest and tetraplegia. As a rule, death occurs immediately at the site of accident. With a well-developed emergency ambulance system in conurbations, however, such cases may be admitted to hospital after resuscitation. After 16 hours, a child admitted to hospital died of a progressive bradycardia with subsequent asystole in respiratory paralysis. The second child survived for 10 months until it died of pneumonia.

[Gelastic epilepsy and precocious puberty in hamartoma of the hypothalamus]. / Gelastische Epilepsie und Pubertas praecox bei Hamartom des Hypothalamus.

Four cases of hypothalamic hamartoma leading to gelastic epilepsy, precocious puberty and behavioural disorders are reported. Cerebral neuroradiologic examinations revealed a tumor-like mass attached to the hypothalamus in the region of the mamillary bodies in all cases. Precocious puberty developed in the two girls at 4 and 13 months but in neither of the two boys, who both suffered behaviour disturbances in the form of aggressive outbursts. A total resection of the tumors of both boys led to histologic confirmation of hamartoma. One boy was free of seizures upon follow-up, whereas seizure frequency in the other boy was reduced, while his aggressivity increased. The cases are discussed in context of current therapeutic conceptions of gelastic epilepsy and central precocious puberty.

Sudden infant death syndrome in Hamburg. An epidemiological analysis of 150 cases.

A retrospective analysis was carried out of 150 SIDS cases seen in the five year period between 1979 and 1983 in Hamburg, Germany. The overall incidence was 2.3 per 1,000 live births. 82% of all infants and 100% of the preterm infants (corrected according to gestational age) dying of SIDS, died within the first 6 months of life. Infants of mothers less than 18 years of age, infants with more than 2 siblings, infants with birthweight less than 1,500 g and SGA-preterm infants were found to be high-risk subgroups. A high percentage (20% of all cases, 43% of infants with mothers less than 18 years) were underweight at death (under the 3rd weight-percentile). The study emphasizes the complexity of internal and external factors in the etiology of SIDS.

Are there tests predictive for prolonged apnoea and SIDS? A review of epidemiological and functional studies.

Sudden infant death syndrome (SIDS) remains the predominant cause of postneonatal mortality. Epidemiological studies have led to the definition of populations with an increased risk for SIDS: subsequent siblings of SIDS victims, infants with near miss for SID episodes, prematurely born infants with perinatal risk factors, and infants of drug dependent mothers. Furthermore, a variety of additional although rarely independent factors regarding both mothers and infants have been found to be associated with an increased risk for SIDS. Despite of this, the majority of infants still dying from SIDS do not belong to one or more of these risk groups and even within a group considered to be at increased risk it is impossible so far to identify individual infants at highest risk on the basis of an infant's history and clinical data. Therefore, different methods have been applied during the last several years in order to detect functional abnormalities of cardiorespiratory control during sleep with the aim of obtaining more specific and sensitive predictors of subsequent severe apnoea and SIDS. In an attempt to evaluate the predictive power of these various methods the present article reviews their results in relation to the follow up data of the infants under study. The results of the meanwhile innumerous studies were found to be at variance and often controversial. At the present time, none of these tests may be looked at as virtually improving our ability to predict the risk for prolonged apnoea and SIDS. One of the reasons for this may be the lack of standardisation of the particular methods with respect to both definition of study groups and conditions of testing infants. Since all of these tests have mainly been performed in infants of epidemiological risk groups, the definition of which is an indispensable prerequisite for the evaluation of both the indication and the results of such tests, an updated survey of the more recent epidemiological studies is given as an introduction.

[Acute apparently life threatening events in 62 infants: anamnestic and clinical data]. / Akute, lebensbedrohlich erscheinende Ereignisse (ALE) bei 62 Säuglingen: Anamnestische und klinische Daten.

Among 62 infants admitted to our hospital after an acute and apparently threatening event which according to the parents required active intervention either by tactile stimulation, or shaking or mouth to mouth ventilation were 21 previously preterm babies, 12 of whom with additional perinatal risk factors, and 41 fullterm infants, 3 of them being subsequent siblings of a SIDS victim. More than 80% of the ALTEs occurred during presumed sleep while the remaining 20% were observed during wakefullness, mostly during or shortly after feeding. The majority was said to be found pale or blue, floppy and mostly unreactive. The parents or caretakers, however, were unable to give reliable information concerning the type of breathing i.e. whether the infants were apneic or not. On admission, 71% of the pre- and 63% of the fullterms showed abnormal signs and symptoms. A total of 14 infants had symptoms of respiratory tract infections, involving the lungs in only 6 cases. An other 10 infants developed moderate enteritis after admission only; 8 of them had stool cultures positive for rotavirus antigen. On the basis of the anamnestic and clinical data including the results of the diagnostic work-up in 14 (34%) of the fullterm and 3 (14%) of the preterm infants a so far unrecognized disorder was diagnosed which in many cases gave access to a specific therapy. If the cases of infections - not including those with only mild respiratory tract involvement often found in cases of SIDs or near miss SIDS - are included in this group their number increased to 27 (43,5%).(ABSTRACT TRUNCATED AT 250 WORDS)

Transcutaneous blood gases and sleep apnea profile in healthy preterm infants during early infancy.

Studying the development of transcutaneous blood gas levels (tcpO2 and tcpCO2) and the sleep apnea profile in relation to sleep states in normal preterm infants between 36 and 52 weeks postconceptual age we found a dynamic increase in tcpO2 during regular breathing (without apnea) and a steady decrease in tcpCO2 during both regular and periodic breathing. The mean tcpO2 of periodic breathing, however, persistently remained well below the corresponding level found during regular breathing. It is suggested that in normal preterm infants there is a continued maturational adjustment of autonomic respiratory control up to 3 months post term and, furthermore, that periodic breathing may persistently be associated with a relative hypoxemia.

[Home monitoring of apnea in children at increased risk for sudden infant death (SIDS)]. / Apnoe-Heimüberwachung von Kindern mit erhöhtem Risiko für den plötzlichen Kindstod (SIDS).

Since 1981, 96 infants considered at increased risk of SIDS underwent home monitoring for prolonged sleep apnea: 23 infants after a near miss for SIDS event, 28 siblings of a SIDS victim and 45 infants with a variety of perinatal risk factors. For a total of 65 infants the course of home monitor surveillance was completed by September 1984 with a duration ranging from 6 to 15 month: 26% (4/15) of the near miss for SIDS group, 23% (3/13) of the SIDS siblings and 13% (5/37) of the perinatal risk cases developed more than one prolonged apneic episode with additional symptoms requiring vigorous intervention by parents. Two infants of the perinatal risk group became SIDS victims: despite an apnea alarm after 15 seconds the parents were unable to resuscitate their infant in one case, the other died from SIDS about 4 month after monitoring was discontinued because of an uneventful course and normal polygraphic sleep recordings The large number of prolonged apneas requiring intervention and the two SIDS cases (3% of the total study group) indicate a considerably increased risk of prolonged life-threatening sleep apnea and SIDS in the population monitored.

Sleep apnoea profile in preterm infants recovering from respiratory distress syndrome.

Polygraphic recordings were made on 10 preterm infants recovering from respiratory distress syndrome and 12 healthy preterm control infants at 40, 52, and 64 weeks' conceptual age to study the influence of respiratory distress syndrome on the development of the sleep apnoea profile. Two significant differences were found: infants with respiratory distress syndrome not only had a lower incidence of non-obstructive apnoea and periodic breathing at 40 weeks but also a persistently higher incidence of obstructive and mixed apnoea at 52 and 64 weeks' conceptual age; the latter finding being related to non-rapid eye movement sleep only. While the lower incidence of both types of apnoea at 40 weeks suggests an advanced maturation of respiratory drive, the persistence of obstructive and mixed apnoea related to non-rapid eye movement sleep may reflect the impact of respiratory distress syndrome on airway structures.

Infant sleep apnea profile: preterm vs. term infants.

By means of polygraphic sleep recording, the sleep apnea profile with respect to the number and duration of inactive, obstructive and mixed apneic episodes as well as periodic breathing has been investigated in infants born preterm at 40, 52 and 64 weeks conceptional age and compared to that of term infants. At 40 weeks preterm infants showed significantly more apnea and periodic breathing compared to term infants. The difference was essentially due to obstructive and mixed apnea in non-REM sleep. There was a sharp decrease in all apneic variables--inactive, obstructive and mixed apnea as well as of periodic breathing--at 52 weeks conceptional age in infants that were previously preterm. Both groups exhibited a rather identical sleep apnea profile at 64 weeks. Two prospectively studied infants in the preterm group later became SIDS victims. One of them might have been identified as being at risk on the basis of his apnea profile compared to the normative data now available.

[Subacute citrullinemia--diagnosis and course up to 4th year of life]. / Citrullinämie vom subakuten Typ--Diagnostik und Verlauf bis ins 4. Lebensjahr.

The article reports on an infant which first in age of nine months and then again in age of 1.6 years had an episode of stupor. Laboratory investigation showed hyperammonemia and high values of transaminases. The differential diagnostic check up led to the diagnosis of citrullinemia in the age of 1.7 years by amino acid chromatography. The diagnosis could be confirmed by measuring enzyme activity in the liver. Therapy is protein-low feeding and supplementation of essential amino acids and arginine. A therapeutic trial with additional sodium benzoate did not show a positive effect. The patient made a significant step backwards in development during the second episode of stupor; however in the following months the retardation could be reduced markedly.