Reflex In Infants Research Articles

Pengaruh Oral Motor Stimulation terhadap Kemampuan Mengisap pada Bayi Berat Badan Lahir Rendah (BBLR) di RSUP Prof. Dr. I. G. N. G Ngoerah Denpasar Bali

Abstract Background : Low Birth Weight Infants (LBWIs) often have underdeveloped oromotor abilities, leading to insufficient sucking and swallowing mechanisms. Oral motor stimulation, involving touch and stimulation, especially in the muscle tissues around the mouth, can enhance blood circulation, improve muscle function, and stimulate sucking reflexes in infants. Objectives : This study aims to determine the influence of oral motor stimulation on the sucking ability of low birth weight infants (LBWIs) at RSUP Prof. Dr. I. G. N. G Ngoerah Denpasar Bali. Methods : The research conducted is an experimental study with a one-group pre-test-post-test design. Purposive sampling was used to select 21 LBWIs facing sucking difficulties at RSUP Prof. Dr. I. G. N. G Ngoerah Denpasar Bali. Respondents received intervention once a day for 5 minutes over 7 consecutive days, 15 minutes before feeding. The collected data were presented descriptively, and normality was tested using the Shapiro-Wilk test. Results : Data analysis using the non-parametric Wilcoxon Signed Test showed a significant influence of oral motor stimulation on sucking ability with a significance value (p=0.000) < 0.05. Conclusion : Oral motor stimulation can improve sucking ability in low birth weight (LBW) babies. Keywords : Oral Motor Stimulation, Sucking Ability, Low Birth Weight Infants (LBWIs)

Guiding Parents of Children With Persistent Primitive Reflexes

Strong primitive reflexes in infants suggest proper development of the central nervous system. However, if not naturally integrated in the first year of life, these persistent primitive reflexes may interfere with further motor and cognitive development as well as emotional regulation. When nurse practitioners diagnose persistent primitive reflexes, parents are often eager to know what can be done at home. Described here is a program evaluation completed on a series of movement-to-music videos called Rockin’ Reflex that provide parents with inexpensive, easy-to-follow videos that they can do at home to help their children integrate these reflexes.

Investigating the development of the autonomic nervous system in infancy through pupillometry.

We aim to investigate early developmental trajectories of the autonomic nervous system (ANS) as indexed by the pupillary light reflex (PLR) in infants with (i.e. preterm birth, feeding difficulties, or siblings of children with autism spectrum disorder) and without (controls) increased likelihood for atypical ANS development. We used eye-tracking to capture the PLR in 216 infants in a longitudinal follow-up study spanning 5 to 24months of age, and linear mixed models to investigate effects of age and group on three PLR parameters: baseline pupil diameter, latency to constriction and relative constriction amplitude. An increase with age was found in baseline pupil diameter (F(3,273.21) = 13.15, p < 0.001, [Formula: see text] = 0.13), latency to constriction (F(3,326.41) = 3.84, p = 0.010, [Formula: see text] = 0.03) and relative constriction amplitude(F(3,282.53) = 3.70, p = 0.012, [Formula: see text] = 0.04). Group differences were found for baseline pupil diameter (F(3,235.91) = 9.40, p < 0.001, [Formula: see text] = 0.11), with larger diameter in preterms and siblings than in controls, and for latency to constriction (F(3,237.10) = 3.48, p = 0.017, [Formula: see text] = 0.04), with preterms having a longer latency than controls. The results align with previous evidence, with development over time that could be explained by ANS maturation. To better understand the cause of the group differences, further research in a larger sample is necessary, combining pupillometry with other measures to further validate its value.

The neurophysiology aspect of congenital craniofacial deformities in children

Congenital craniofacial deformities in children are conditions with varying degrees of severity between minor and severe, they can be present at birth, but they can also be detected during the child's development. Material and methods. In the period 2014-2021, 57 children (29 boys and 28 girls), average age 9,1 ± 2,4 months, with craniofacial deformities from different medical centers in the Republic of Moldova were examined polysystemically. In this sense, we evaluated the state of the masseter, temporal and tongue muscles by electromyography with surface electrodes to determine the quality of their muscle activity. Recordings of the bioelectrical activity of muscle activity during exercise were performed using a Nihon Kohden portable electromyograph (Japan). Results. The balance dysfunction of the neuromuscular system in these children, as a neuro-physiological sign of pathological muscular weakness in the sucking reflex activity, is highlighted in 87.7% of cases by a marked asymmetry (p&lt;0.001) of the tongue and masseter muscles activity and, respectively less highlighted (p&lt;0.05) of the anterior temporal. Discussion. Thus, the EMG pattern evaluation highlights a decrease in the average amplitude of the action potentials (mV) mainly for the tongue, mm. masseters and temporalis on the left side, associated with an increase in the potential (ms) average duration from both the affected and the contralateral muscles, thus reflecting the reduction in their contraction capacity and the quality decrease in the act of sucking and mastication, predominantly on the left, in the child with congenital craniofacial deformities and disorders of the sucking reflex in infants. Conclusions. The neurophysiological examination highlights various forms of muscle function abnormalities in children with craniofacial deformities, which require multifunctional and multidisciplinary recovery.

The Development of Sound Localization Latency in Infants and Young Children with Normal Hearing.

With the advances in eye tracking, saccadic reflexes towards auditory stimuli have become an easily accessible behavioral response. The present study investigated the development of horizontal sound localization latency quantified by saccadic reflexes in infants and young children with normal hearing (0.55 to 5.6 years, n = 22). The subject was seated in front of an array of 12 loudspeaker/display-pairs arranged equidistantly in an arc from −55 to + 55° azimuth. An ongoing auditory-visual stimulus was presented at 63 dB SPL and shifted to another randomly selected pair at 24 occasions. At each shift, the visual part of the stimulus was blanked for 1.6 s providing auditory-only localization cues. A sigmoid model was fitted to the gaze samples following the azimuthal sound shifts. The overall sound localization latency (SLL) for a subject was defined as the mean of the latencies for all trials included by objective criteria. The SLL was assessed in 21 of 22 children with a mean of 6.1 valid trials. The SLL ranged 400 to 1400 ms (mean = 860 ms). An inverse model demonstrated a significant relationship between SLL and age (R2 = 0.79, p < 0.001), reflecting a distinct reduction of latency with increasing age. No partial correlation between SLL and sound localization accuracy was found when controlling for age (p = 0.5), suggesting that localization latency may provide diagnostic value beyond accuracy.

Assessment of Different Technique of Eliciting the Planter Reflex in Term Neonates

Background: Planter reflex is still an essential part of the neurological examination. The usual plantar reflex involved bending of the big toe or no response. There is a positive Babinski signal with corticospinal dysfunction, which involves big toe dorsal flexion and the accompanying fanning of the other toes. It’s one of the infant reflexes that disappers as the infant nervous system grows. The plantar reaction is primarily extensive in stable, term neonates. Many have researched this reflex's accuracy but very few studies have analyzed the various techniques of the planting reflex.&#x0D; Objective: To assess the five different technique of eliciting the plantar reflex in newborn babies.&#x0D; Materials and Methods: In this cross-sectional study, the eligible healthy newborn will be given the different methods for the elicitation of the plantar reflex i.e. Oppenheim sign, Gordon sign, Gonda’s sign, Chaddock sign, and Schaefer sign. During this procedure, we will record the baseline RR, HR, and SpO2 before, and after the procedure. Three pediatric residents of the different years will be selected for examining the newborn reflexes throughout the study period.&#x0D; Results: After completion of the study, we will come to know the negative likelihood ratio, negative predictive value, positive predictive, specificity, positive likelihood ratio, and sensitivity of the Oppenheim sign, Gordon sign, Gonda’s sign, Chaddock sign, and Schaefer sign.&#x0D; Conclusion: The study will probably give us information about the sensitivity and specificity of the Oppenheim sign, Gordon sign, Gonda’s sign, Chaddock sign, and Schaefer sign for the elicitation of the plantar reflex in the neonates.

Effect of age on acoustic reflex thresholds in neonates and infants with normal hearing

&lt;p&gt;&lt;strong&gt;Background:&lt;/strong&gt; High frequency (1000 Hz) probe tone holds substantial promise for carrying out acoustic reflexes in neonates and infants. A limited number of studies indicates that acoustic reflex thresholds (ART) also change significantly with age as the newborn hearing system matures. However, there is a need for obtaining more data before using it in a clinical population. The aim was to investigate effect of age of infants on ARTs. Effect of activator signal was also explored. &lt;strong&gt;&lt;/strong&gt;&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods:&lt;/strong&gt; ARTs were monitored using a 1 kHz probe tone for the 500 Hz, 1 kHz, 2 kHz, and 4 kHz pure tone activators in neonates and infants in the age range of 6 to 8 weeks were analysed.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results&lt;/strong&gt;: The mean ARTs for neonates were lower compared to infants. Results of repeated measure ANOVA showed that there was a statistically significant age effect. Also, ARTs for high frequency activator signals were significantly higher than the ARTs for low frequency signals.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions:&lt;/strong&gt; The acoustic reflexes can be elicited for 500, 1000, 2000, and 4000 Hz when monitored using a 1000 Hz probe tone. There is an effect of age and activator signal on the acoustic reflex threshold. The data obtained in the present study can serve as normative for 0-1-week neonates and 6-8-weeks infants.&lt;/p&gt;

Neuromotor readiness for school: the primitive reflex status of young children at the start and end of their first year at school in the United Kingdom

ABSTRACT The presence of primitive (infant) reflexes in school-aged children as indicators of immaturity in neuromotor functioning has been associated with under-achievement in terms of reading, writing and mathematics, and been linked to conditions such as dyslexia, developmental coordination disorder (DCD) and attention deficit and hyperactivity disorder (ADHD). The research presented here explores the extent to which three such reflexes, previously linked to learning and behavioural difficulties in the classroom, were present in a sample of 120 children in the September that they started formal schooling (aged 4–5) in the United Kingdom (UK). Approximately half of these children then participated in a movement programme and 108 were then tested again towards the end of their first year at school. The data demonstrate that a high percentage of young children are, indeed, starting school with one or more of these reflexes present to some extent. Those children who received no additional input throughout the school year showed no improvements in their reflex status when compared to children who had participated in a developmental movement programme. Thus, recommendations are made for further research; particularly in relation to neuromotor screening, appropriate physical development provision prior to and during school; and developmental movement interventions for older children.

Developmental Nicotine Exposure Alters Synaptic Input to Hypoglossal Motoneurons and Is Associated with Altered Function of Upper Airway Muscles.

Nicotine exposure during the fetal and neonatal periods [developmental nicotine exposure (DNE)] is associated with ineffective upper airway protective reflexes in infants. This could be explained by desensitized chemoreceptors and/or mechanoreceptors, diminished neuromuscular transmission or altered synaptic transmission among central neurons, as each of these systems depend in part on cholinergic signaling through nicotinic AChRs (nAChRs). Here, we showed that DNE blunts the response of the genioglossus (GG) muscle to nasal airway occlusion in lightly anesthetized rat pups. The GG muscle helps keep the upper airway open and is innervated by hypoglossal motoneurons (XIIMNs). Experiments using the phrenic nerve-diaphragm preparation showed that DNE does not alter transmission across the neuromuscular junction. Accordingly, we used whole cell recordings from XIIMNs in brainstem slices to examine the influence of DNE on glutamatergic synaptic transmission under baseline conditions and in response to an acute nicotine challenge. DNE did not alter excitatory transmission under baseline conditions. Analysis of cumulative probability distributions revealed that acute nicotine challenge of P1–P2 preparations resulted in an increase in the frequency of nicotine-induced glutamatergic inputs to XIIMNs in both control and DNE. By contrast, P3–P5 DNE pups showed a decrease, rather than an increase in frequency. We suggest that this, together with previous studies showing that DNE is associated with a compensatory increase in inhibitory synaptic input to XIIMNs, leads to an excitatory-inhibitory imbalance. This imbalance may contribute to the blunting of airway protective reflexes observed in nicotine exposed animals and human infants.

Onset of Lactation in Mothers of Preterm Infants

Introduction: Breastfeeding is great for all newborns, but studies have shown it can be increasingly beneficial in premature infants. Due to the lack of a mature suck-swallow reflex in infants below 33 weeks gestation, providing breast milk can become a difficult challenge for mothers of premature infants. This is due to the premature infant’s inability to feed at the breast and the subsequent lack of stimulation provided by the infant. There is also a lack of research related to …

Usefulness of ‘Babkin Reflex’ in normal term Indian infants

Background: The Babkin Reflex belongs to the group of rarely defined and used primitive reflexes, being easily elicited in normal newborns during wakeful state particularly before feeding. To the best of our knowledge there have been no studies in India about the validity and usefulness of this reflex. Aim: The purpose of this study was to observe the consistency in duration of appearance and disappearance of the reflex in normal Term infants. Settings and Design: Hospital based, prospective, observational, longitudinal, single ethnicity study. Method: A prospective observational study was conducted to study the Babkin reflex in two thousand normal infants and also analyzed the average time of disappearance of the reflex. Descriptive statistics with rate were used. Results and Conclusion: In normal term infants, the Babkin reflex can be elicited from the time of birth, becomes increasingly suppressed with age, and disappears in the great majority by the end of the fifth month of age. Babkin reflex is surprisingly a fairly consistent primitive reflex which can be used as a screening reflex in all infants. Persistence of this reflex beyond 5 months of age mandates frequent neurological assessment.

Development of vestibular ocular reflex and gross motor function in infants with common cavity deformity as a type of inner ear malformation

Background： The function of common cavity deformity demonstrated by temporal bone CT and MRI has been unknown.Aim/Objective: To investigate the developmental changes of vestibular ocular reflex and acquisition of postural control in infants with common cavity deformity.Material and methods: Eight infants who were congenitally deaf complicated by common cavity deformity were studied. The damped rotational chair test was carried out to evaluate vestibular ocular reflex. Acquisition of head control and independent walking in these infants was compared with that in normal infant’s milestones of gross motor development.Results: All of the eight infants with common cavity deformity did not show per-rotatory nystagmus in the damped rotational chair test around the first year of life. However, a normal number of beats and a longer duration of per-rotatory nystagmus for their age were recorded at around three or four years of age.Conclusions and significance: In the eight infants with common cavity deformity, vestibular ocular reflex was not present around the first year of life, but appeared after three or four years probably because of some vestibular sensory cells. Head control and independent walking were delayed but eventually acquired by the central vestibular compensation.

INISIASI ASI TERHADAP MOTORIK BAYI DI RW 08 DUSUN LEBAKJATI DESA CILELES KECAMATAN JATINANGOR

The purpose of this study was to see the initiation habits of breastfeeding and the effect of breast milk on infant. This research is a descriptive qualitative study with subjects of mothers and infant aged 0-24 months. The data collection technique used is observation by observing infant reflexes, and using interview techniques to gather information through asking face-to-face. The analysis technique used is to describe the data obtained in the field. Based on the results of the analysis, it was concluded that infant who get breast milk from their mothers in full from the age of 0-24 months produce good infant reflexes and can carry out activities that are balanced with the development of their age.

Parent participation in the neonatal intensive care unit: Predictors and relationships to neurobehavior and developmental outcomes

ObjectiveTo 1) define predictors of parent presence, any holding, holding in arms, and skin-to-skin care in the NICU and 2) investigate the relationships between parent participation and a) early neurobehavior and b) developmental outcomes at age 4 to 5years among preterm infants. MethodsEighty-one preterm infants born ≤32weeks estimated gestational age were prospectively enrolled within one week of life in a level III–IV NICU. Parent (maternal and paternal) presence and holding (including holding in arms and skin-to-skin care) were tracked throughout NICU hospitalization. Neurobehavior at term equivalent age and development at 4 to 5years were determined using standardized assessments. ResultsThe median number of days per week parents were documented to be present over NICU hospitalization was 4.0 (IQR=2.4–5.8) days; days held per week 2.8 (IQR=1.4–4.3) days [holding in arms days per week was 2.2 (IQR=1.2–3.2) days and parent skin-to-skin care days per week was 0.2 (IQR=0.0–0.7) days]. More parent presence was observed among mothers who were Caucasian, married, older, or employed and among those who had fewer children, familial support and provided breast milk (p<0.05). More holding was observed in infants with fewer medical interventions (p<0.05) and among those who were Caucasian, had a father who was employed, had fewer children and family support (p<0.05). More parent holding in the NICU was related to better reflex development at term age (p=0.02). More parent skin-to-skin care was related to better infant reflexes (p=0.03) and less asymmetry (p=0.04) at term and better gross motor development (p=0.02) at 4–5years. DiscussionSocial and medical factors appear to impact parent presence, holding, and skin-to-skin care in the NICU. Parent holding is related to better developmental outcomes, which highlights the importance of engaging families in the NICU.

Trudności sensoryczne a pełnienie roli ucznia na przykładzie dzieci ze specjalnymi potrzebami edukacyjnymi

Celem artykułu jest przedstawienie zagadnień dotyczących nieprawidłowości w zakresie przetwarzania sensorycznego u uczniów ze specjalnymi potrzebami edukacyjnymi. Brak właściwej stymulacji dotykowej, przedsionkowej, proprioceptywnej i pozostałych zmysłów wpływa na proces uczenia się i wywiązywania z powierzonych zadań uczniów z SPE. Nieprawidłowa stymulacja sensoryczna potęguje trudności w nabywaniu kompetencji samoobsługowych, koordynacji wzrokowo-ruchowo-czuciowej, umiejętności ruchowych czy integracji odruchów niemowlęcych. Dlatego też należy zadbać o to, aby rodzice, nauczyciele i specjaliści prowadzący różne terapie z dzieckiem ze specjalnymi potrzebami edukacyjnymi wzięli pod uwagę w procesie wychowania aspekt optymalnej stymulacji sensorycznej.

Palmar Grasp Reflex in Human Newborns

Purpose: To review palmar grasp reflex in human infants regarding psychomotor development. Method: “Palmar grasp reflex” and “grasping reflex” were searched in scientific journals published between 2000 and 2016. Two groups were identified in newborns up to six months: (1) Palmar grasp reflex was studied as part of instruments of neuropsychomotor evaluation. (2) Palmar grasp reflex was taken as a dependent or independent variable. Results: Eighteen articles were selected. Four were excluded because of inappropriate methods. Concerning the fourteen remaining, teen were included in group 1 (A) and four in group 2 (B). Conclusions: Palmar grasp reflex may be part of different instruments used to evaluate clinical and developmental studies. It may be easily detected without a necessary environment. Its intensity may be used as an index for acquisition of motor skills and lateral differences may be associated with hand preference in adults.

Changing Balance of Spinal Cord Excitability and Nociceptive Brain Activity in Early Human Development

SummaryIn adults, nociceptive reflexes and behavioral responses are modulated by a network of brain regions via descending projections to the spinal dorsal horn [1]. Coordinated responses to noxious inputs manifest from a balance of descending facilitation and inhibition. In contrast, young infants display exaggerated and uncoordinated limb reflexes [2]. Our understanding of nociceptive processing in the infant brain has been advanced by the use of electrophysiological and hemodynamic imaging [3, 4, 5, 6]. From approximately 35 weeks’ gestation, nociceptive-specific patterns of brain activity emerge [7], whereas prior to this, non-specific bursts of activity occur in response to noxious, tactile, visual, and auditory stimulation [7, 8, 9, 10]. During the preterm period, refinement of spinal cord excitability is also observed: reflex duration shortens, response threshold increases, and improved discrimination between tactile and noxious events occurs [2, 11, 12]. However, the development of descending modulation in human infants remains relatively unexplored. In 40 infants aged 28–42 weeks’ gestation, we examined the relationship between nociceptive brain activity and spinal reflex withdrawal activity in response to a clinically essential noxious procedure. Nociceptive-specific brain activity increases in magnitude with gestational age, whereas reflex withdrawal activity decreases in magnitude, duration, and latency across the same developmental period. By recording brain and spinal cord activity in the same infants, we demonstrate that the maturation of nociceptive brain activity is concomitant with the refinement of noxious-evoked limb reflexes. We postulate that, consistent with studies in animals, infant reflexes are influenced by the development of top-down inhibitory modulation from maturing subcortical and cortical brain networks.

Effect of nasal noninvasive respiratory support methods on pharyngeal provocation-induced aerodigestive reflexes in infants.

The pharynx is a locus of provocation among infants with aerodigestive morbidities manifesting as dysphagia, life-threatening events, aspiration-pneumonia, atelectasis, and reflux, and such infants often receive nasal respiratory support. We determined the impact of different oxygen delivery methods on pharyngeal stimulation-induced aerodigestive reflexes [room air (RA), nasal cannula (NC), and nasal continuous positive airway pressure (nCPAP)] while hypothesizing that the sensory motor characteristics of putative reflexes are distinct. Thirty eight infants (28.0 ± 0.7 wk gestation) underwent pharyngoesophageal manometry and respiratory inductance plethysmography to determine the effects of graded pharyngeal stimuli (n = 271) on upper and lower esophageal sphincters (UES, LES), swallowing, and deglutition-apnea. Comparisons were made between NC (n = 19), nCPAP (n = 9), and RA (n = 10) groups. Importantly, NC or nCPAP (vs. RA) had: 1) delayed feeding milestones (P < 0.05), 2) increased pharyngeal waveform recruitment and duration, greater UES nadir pressure, decreased esophageal contraction duration, decreased distal esophageal contraction amplitude, and decreased completely propagated esophageal peristalsis (all P < 0.05), and 3) similarly developed UES contractile and LES relaxation reflexes (P > 0.05). We conclude that aerodigestive reflexes were similarly developed in infants using noninvasive respiratory support with adequate upper and lower aerodigestive protection. Increased concern for GERD is unfounded in this population. These infants may benefit from targeted oromotor feeding therapies and safe pharyngeal bolus transit to accelerate feeding milestones.

Review of external ocular compression: clinical applications of the ocular pressure estimator.

PurposeThe authors have previously validated an Ocular Pressure Estimator (OPE) that can estimate the intraocular pressure (IOP) during external ocular compression (EOC). The authors now apply the OPE in clinical states where EOC is clinically important. The original work is described for two periods of risk: during sleep and during the digital ocular massage (DOM) maneuver used by surgeons after trabeculectomy to keep the operation functional. Other periods of risk for external ocular compression are then reviewed.MethodsThe first protocol estimated the IOP in the dependent eye during simulated sleep. Subjects had their IOPs initially measured in an upright-seated position, immediately upon assuming a right eye dependent side sleeping position (with nothing contacting the eye), and then 5 minutes later while still in this position. While maintaining this position, the fluid filled bladder of the OPE was then placed between the subject’s closed eye and a pillow during simulated sleep. The IOP was continuously estimated in this position for 5 minutes. The subjects then had the IOP measured in both eyes in an upright-seated position. The second protocol determined if a larger vertical cup-to-disc ratio was more common on the side that patients reported they preferred to sleep on. The hypothesis was that chronic asymmetric, compression induced, elevations of IOP during sleep would be associated with otherwise unexplained asymmetry of the vertical cup-to-disc ratio. The third protocol assessed the IOP during DOM. The OPE was used to characterize the IOP produced during the DOM maneuver of five glaucoma surgeons. After this, 90 mmHg was chosen as a target pressure for DOM. The surgeons were then verbally coached during three additional compressions. After a 5-minute period, the surgeons were asked to reproduce this targeted IOP during subsequent compressions.ResultsThe mean IOP during the “sleep session” was 22±5 mmHg (SEM). The mean peak pressure was 40±11 mmHg (SEM) and the mean trough pressure was 15±2 mmHg (SEM). There was a 78% agreement between the eye that was reported to be dependent during sleep and the eye with the larger vertical cup-to-disc ratio, for eyes with at least a 0.10 cup-to-disc ratio difference, P=0.001, n=137. The OPE estimated an average induced IOP during typical DOM of 104±8 mmHg (SEM), with each compression having an average range of 17±3 mmHg (SEM). After coaching, and a 5-minute waiting period, the average induced IOP reduced to 95±3 mmHg (SEM) with a reduced average range of IOP to 11±1 mmHg.ConclusionThe OPE was successfully used to estimate the IOP while subjects experienced EOC during normal sleep postures. These EOC-induced elevations of IOP were considerable, and likely contribute to significant ocular pathology, not only for glaucoma, but for retinal vascular occlusive diseases, retinal vascular leakage, and the induction of the ocular-cardiac reflex in infants, as well. The correlation of a larger vertical cup-to-disc ratio in patients with a sleep posture preference suggests a causal relationship, since patients with other conditions known to be associated with cup-to disc ratio asymmetry were excluded from this study. The OPE is a useful device to teach DOM to surgeons and patients for home use.

Sengers Syndrome: A Rare Cause of HOCM

Sengers syndrome is a rare disorder that causes congenital cataract, hypertrophic cardiomyopathy (HOCM), skeletal myopathy and lactic acidosis. Hypertrophic cardiomyopathy is usually fatal in infancy. It is an autosomal recessive mitochondrial depletion disorder resulting from the mutation of acylglycerol kinase (AGK) gene. This nuclear gene is responsible for the maintenance of mitochondrial DNA (mDNA). We report a 4 month old boy who had severe lactic acidosis at birth and progressive congenital cataract. Cataract and failure to thrive were missed on his primary examination until he presented with a squint and subsequently with heart failure secondary to severe hypertrophic cardiomyopathy. His genetic testing revealed a novel putative homozygous splicing mutation of AGK gene leading to the diagnosis of Sengers syndrome. Uncertainty about the red reflex in non-Caucasian infants is common in primary examinations. Unexplained and persistent lactic acidosis at birth should not be discounted and should be followed up after discharge. Sengers syndrome should be considered as a differential diagnosis in babies who present with congenital cataracts especially if associated with lactic acidosis and later hypertrophic cardiomyopathy.