Early Infantile Period Research Articles

The anesthetic management of a child with ohtahara syndrome and severe stridor: a case report

BackgroundOhtahara syndrome is a progressive developmental and epileptic encephalopathy that manifests in the early infantile period. This rare condition is characterized by intractable seizures, psychomotor retardation, and poor prognosis. To date, there are a handful of case reports regarding the anesthetic management of children with Ohtahara syndrome. However, limited reports exist of patients with Ohtahara syndrome who present with difficult airways. This report describes our airway findings and general anesthetic management of a pediatric patient with Ohtahara syndrome undergoing diagnostic bronchoscopy for severe inspiratory stridor.Case presentationA 14-month-old, 9 kg, male patient with Ohtahara syndrome presented with a year-long history of severe inspiratory stridor and was scheduled for bronchoscopy with lavage. On exam, the patient had noisy breathing, was non-verbal with developmental delay, and had poor head control with significant central hypotonia. The patient was induced with ketamine and general anesthesia was maintained with propofol. Bronchoscopic evaluation was completed uneventfully and revealed a diagnosis of laryngotracheomalacia. The patient’s breathing was maintained spontaneously throughout the procedure and no seizures were noted. In the post anesthesia care unit, the patient’s respiratory and cardiovascular function were stable.ConclusionsThis report documents the unusual finding of severe inspiratory stridor in a 14-month-old child diagnosed with Ohtahara syndrome and our anesthetic management during their diagnostic bronchoscopy. Currently, documentation of complex airway pathology present in patients with Ohtahara syndrome is limited and should be further evaluated. This will assist pediatric anesthesiologists as these patients may require careful preoperative assessment, thoughtful airway management, and surgical alternatives on standby.

A Case Report of a Patient with Pyruvate Carboxylase Deficiency

Background: Pyruvate carboxylase catalyzes the carboxylation of pyruvate to oxaloacetate, a crucial intermediate of the tricarboxylic acid (TCA) cycle and the initial step in converting pyruvate to glucose (gluconeogenesis). Pyruvate carboxylase deficiency is a rare metabolic disorder characterized by lactic acidosis, failure to thrive, development delay, and recurrent seizures at an early age in severely affected patients. The onset and severity of pyruvate carboxylase deficiency have been classified as severe neonatal (type B), usually fatal, less severe infantile (type A), compatible with survival but with impaired neurologic development, and milder, later onset (type C) with some residual impairment. Clinical manifestations include hypotonia, mixed hypertonia, ataxia, choreoathetosis, microcephaly, and other signs of impaired white matter development. Case Report: A 7-day-old baby with a birth weight of 3kg, born to related parents, presented with clinical symptoms such as lethargy, poor feeding, and grunting since birth. Additionally, he experienced a drop in O2 saturation and cyanosis during his hospitalization. Test results revealed lactic acidosis and hyperammonemia. Furthermore, serum amino acids chromatography- HPLC indicated an increase in lysine and citrulline. The patient succumbed after 16 days due to multi-organ damage. Genetic analysis identified pyruvate carboxylase enzyme deficiency. Conclusion: Pyruvate carboxylase deficiency is a rare inborn error of metabolism that can lead to developmental delay and failure to thrive, typically beginning in the neonatal or early infantile period. The possibility of pyruvate carboxylase deficiency should be considered in any child presenting with lactic acidosis and neurological abnormalities, particularly if associated with hypoglycemia, hyperammonemia, or ketosis.

Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience.

Though PCD usually presents after birth in term neonates, diagnosing PCD during the neonatal and infancy stages is uncommon, particularly in children who do not exhibit laterality defects. We report our recent experience with the diagnosis of PCD in the neonatal and early infantile period in a highly consanguine population. This was achieved by implementing a novel genetic-based diagnostic approach based on direct testing for recognized regional genetic variants. We conducted a retrospective analysis of children diagnosed with PCD at Soroka University Medical Center during the neonatal or early infantile period between 2020 and 2023. We included children under 3 months of age who had a genetic confirmation of PCD, as evidenced by the presence of two pathogenic variants in recognized genes. Genetic testing targeted regional genetic variants in previously identified PCD genes. Eight patients were included. The median age at diagnosis was 12.5 days. Three (38%) were born prematurely < 34 weeks gestational age. All patients were presented with respiratory distress and hypoxemia after birth. The median duration of oxygen support was 23 days, and upper lobe atelectasis was present in five patients (63%). Congenital cardiac malformation was present in four patients. Organ laterality defects were present in four patients. Genetic mutations identified were in the DNAAF5, DNAL1, DNAAF3, and DNAH1 genes. Conclusion: Neonatal diagnosis of PCD is uncommon, especially in atypical presentations such as children without laterality defects or preterms. Focusing on a genetic diagnosis of the local tribal pathogenic variants promotes a potential cost-efficient test leading to earlier diagnosis. There is a need for a standardized protocol for earlier diagnosis of PCD in high-consanguinity areas. What is Known: • Primary ciliary dyskinesia (PCD) typically presents after birth in term neonates. • Diagnosing PCD during neonatal and infancy stages is challenging, particularly in children without laterality defects. What is New: • A novel genetic-based diagnostic approach was implemented on the neonatal population in a highly consanguine community, focusing on direct testing for regional genetic variants, leading to early and rapid diagnosis of PCD.

2 cases of congenital hypopituitarism due to pituitary stalk interruption syndrome (PSIS) diagnosed in the early infantile period

2 cases of congenital hypopituitarism due to pituitary stalk interruption syndrome (PSIS) diagnosed in the early infantile period

DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia.

DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia.

Pelizaeus-Merzbacher disease-like disorder in an Indian girl with a missense variant in GJC2 gene

Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay and dysarthria. We present a 7-year-old female born to a nonconsanguineous marriage with developmental delay. On examination, she had 22 teeth, and nystagmus with pseudophakia. Neurological examination showed spasticity with increased deep tendon reflexes. On investigation, MRI of the brain done at 3 years showed hypomyelination. Targeted exome sequencing revealed a homozygous non-synonymous variation c.138C&gt;G in exon 2 of the GJC2 gene. Sanger sequencing was done which showed the presence of a variant in the heterozygous state in both parents. PMLD1 should be suspected in any child presenting with diffuse hypomyelination with abnormal eye movements, especially in a girl child with PelizaeusMerzbacher disease phenotype with hypomyelination in the pons.

Expression of voltage-gated Ca2+ channels, Insp3Rs, and RyRs in the immature mouse ovary

BackgroundThe postnatal mammalian ovary undergoes a series of changes to ensure the maturation of sufficient follicles to support ovulation and fecundation over the reproductive life. It is well known that intracellular [Ca2+]i signals are necessary for ovulation, fertilization, and egg activation. However, we lack detailed knowledge of the molecular identity, cellular distribution, and functional role of Ca2+ channels expressed during folliculogenesis. In the neonatal period, ovarian maturation is controlled by protein growth factors released from the oocyte and granulosa cells. Conversely, during the early infantile period, maturation becomes gonadotropin-dependent and is controlled by granulosa and theca cells. The significance of intracellular Ca2+ signaling in folliculogenesis is supported by the observation that mice lacking the expression of Ca2+/calmodulin-dependent kinase IV in granulosa cells suffer abnormal follicular development and impaired fertility.ResultsUsing immunofluorescence in frozen ovarian sections and confocal microscopy, we assessed the expression of high-voltage activated Ca2+ channel alpha subunits and InsP3 and ryanodine receptors in the postnatal period from 3 to 16 days. During the neonatal stage, oocytes from primordial and primary follicles show high expression of various Ca2+-selective channels, with granulosa and stroma cells expressing significantly less. These channels are likely involved in supporting Ca2+-dependent secretion of peptide growth factors. In contrast, during the early and late infantile periods, Ca2+ channel expression in the oocyte diminishes, increasing significantly in the granulosa and particularly in immature theca cells surrounding secondary follicles.ConclusionsThe developmental switch of Ca2+ channel expression from the oocytes to the perifollicular cells likely reflects the vanishing role of the oocytes once granulosa and theca cells take control of folliculogenesis in response to gonadotropins acting on their receptors.

Critical coarctation of the aorta in newborn - A case presentation

Background: Heart defects are the most popular congenital disease noticed among infants. Aortic Coarctation (CoA) forms 5 - 10 % of congenital heart diseases. The heart defect consist on aortic coarctation between inlet of the left subclavian artery and origin of the arterial ligament. In the during neonatal and early infantile period, in case of delayed diagnosis, it may lead to acute heart failure and the death of the child. &#x0D; Case report: A female infant born at 37 weeks of gestation, by caesarean section, in good condition, was admitted to the Neonatal Department. There was a suspicion of CoA in the fetus in the pregnancy history. The Echocardiography showed a narrowing of the carpal tunel, prostin was included in the treatment. In the second day of life, the child was transferred to the Cardiology Department. Four-extremity blood pressures test showed higher values in the upper limbs than in the lower limbs. Echocardiography revealed hypoplasia of the aortic arch in the section below the exit of the second cephalic vessel with coarctation at the isthmus site. Laboratory tests showed a high level of pro-BNP. The control echocardiography showed the anatomy of the defect as before, an unobstructed wide arterial duct with a dominant R-L flow, a flow in the descending aorta of 2.7 m/s, with a coartable flow spectrum. The child was transported to the Department of Cardiac Surgery, Heart Transplantation and Mechanical Circulatory Support for Children in Zabrze for surgical treatment. &#x0D; Conclusions: In neonates and infants with critical aortic stenosis, ensure the patency of the ductus arteriosus with continuous intravenous infusion of prostaglandin E1. Currently, echocardiography is the basic method in the diagnosis of aortic stenosis. &#x0D;

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of glycogenosis. The data from the electronic hospital records of 25 patients diagnosed with liver GSD IX was reviewed. Symptoms, clinical findings, and laboratory and molecular analysis were assessed. Of the patients, 10 had complaints of short stature in the initial presentation additionally other clinical findings. Elevated serum transaminases were found in 20 patients, and hepatomegaly was found in 22 patients. Interestingly, three patients were referred due to neurodevelopmental delay and hypotonia, while one was referred for only autism. One patient who presented with neurodevelopmental delay developed hepatomegaly and elevated transaminases during the disease later on. Three of the patients had low hemoglobin A1C and fructosamine values that were near the lowest reference range. Two patients had left ventricular hypertrophy. Three patients developed osteopenia during follow-up, and one patient had osteoporosis after puberty. The most common gene variant, PHKA2, was observed in 16 patients, 10 variants were novel and six variants were defined before. Six patients had variants in PHKG2, two variants were not defined before and four variants were defined before. PHKB variants were found in three patients. One patient had twonovel splice site mutations in trans position. It was revealed that one novel homozygous variant and one defined homozygous variant were found in PHKB. This study revealed that GSD IX may present with only hypotonia and neurodevelopmental delay without liver involvement in the early infantile period. It should be emphasized that although liver GSDIX is thought of as a benign disease, it might present with multisystemic involvement and patients should be screened with echocardiography, bone mineral densitometry, and psychometric evaluation.

Parent-child relationship in psychogenesis of female psychogenic infertility (psychoanalytic perspective)

Horney, D. Pines, T. Benedek, M. Bydlowski, F. Tyson and R. Tyson, K. Brisch. The object of this research is the phenomenon of psychogenic infertility in female development. The subject is the parent-child relationship in the context of women with psychogenic infertility. The article reveals the unspecified features of development of women with infertility: personality traits, leading mental conflicts, fixations, defense mechanisms, type of attachment, experience of object relationship. The article traces the dependence of woman&amp;rsquo;s reproductive function in symptom cluster of infertility on her psyche, as well as influence of object relationship and attachment pattern on the occurrence of mental conflicts that lead to infertility. The following possible factors of psychogenic infertility are determined: 1. Pathological fixation in the early infantile period. Inability to separate from the mother, 2. Inability to identify with the mother. 3. Infertility as defense against regression, i.e. fear to encounter internal conflicts. &amp;nbsp;4. Hatred and ambivalent attitude towards the mother. Unwillingness to pass on the &amp;ldquo;mandate of life&amp;rdquo;. &amp;nbsp;5. Confusion of identity, improper gender-role identification with the mother due to improper distribution of roles in family, disturbance of personal boundaries, &amp;nbsp;and pathological symbiosis. The article reveals similar prerequisites for the formation of psychogenic infertility: type of attachment, disturbance of early object relationship, leading mental conflict, basic defense, and the impact of transgenerational experience. Defensive strategies that are intended for coping with intense inner anxiety create an unconscious compromise between mental state and body, which leads to psychogenic infertility. &amp;nbsp;

Early Cleft Lip Repair and Its Effect on Infant Weight Gain

Cleft lip and palate (CLP) is the most common congenital birth defect of the head and neck. Infants with CLP experience difficulties with feeding, leading to low weight gain and failure to thrive.1 At our institution, a paradigm shift has occurred where children with unilateral cleft lip defects are repaired in the late neonatal to early infantile period.2 Before the introduction of early cleft lip repair (ECLR), wide complete cleft lip defects were treated with adjuvant nasoalveolar molding (NAM) and repaired at the age of 3-6 months. The advantage of ECLR lies in the avoidance of the cumbersome and irritating NAM process that requires frequent biweekly dental clinic visits and parental adherence to an appliance protocol. Because little is known about the effects of ECLR on infantile feeding and weight gain, the purpose of this study is to compare the effect of ECLR on weight gain in contrast to NAM and standard timing of cleft repair.

新生児期・乳児期早期の発達評価:—General movements評価法を中心に—

新生児期・乳児期早期の発達評価:—General movements評価法を中心に—

Spectrum of genetic early onset epileptic encephalopathies in a tertiary pediatric neurology center in Dubai, UAE

Early onset epileptic encephalopathies (EOEE) are severe disorders characterized by several seizure types, frequent epileptiform activity on EEG, and developmental slowing or regression during the neonatal or early infantile periods. They include Ohtahara syndrome, early myoclonic epileptic encephalopathy and malignant migrating partial seizures of infancy and other undetermined syndromes. The causes can include structural, neurometabolic and genetic disorders. Genetic diagnoses are increasingly made in these cases with availability of next generation genetic studies, especially Whole Exome Sequencing (WES). Latifa Women and Children Hospital provides tertiary pediatric neurology service to Dubai and the Northern Emirates of UAE, catering to a population of 8 million. We describe a cohort of 40 cases of genetically proven early onset epileptic encephalopathies, including their age of onset, electro-clinical features, imaging findings, response to therapy and outcome. The aim of this presentation is to highlight the spectrum of genetic diagnoses in early onset epileptic encephalopathies and to describe the genetic mutations in a cohort of patients from the Middle East region.

Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation

PurposeEarly myoclonic encephalopathy (EME) is a form of developmental and epileptic encephalopathy with myoclonic seizures and a suppression burst on electroencephalogram, which occurs during the neonatal or early infantile period and is characterized by highly intractable seizures and severe development impairment. Although multiple genetic aetiologies of EME have been identified, no SCN1A mutation has been reported. MethodsWe described a female patient with EME due to an SCN1A mutation. ResultsShe developed frequent myoclonic and apnoeic seizures during the neonatal period. As her seizures were refractory to many antiepileptic drugs, she underwent a tracheotomy and has since been treated with continuous mechanical ventilation. Eventually, perampanel was added, which resulted in the cessation of the apnoeic seizures. Genetic analysis revealed a heterozygous de novo missense mutation in the SCN1A gene (c.2588 T > C:p.Leu863Ser). ConclusionThis is the first patient with EME due to anSCN1A mutation to be successfully treated with perampanel. Recently, perampanel was reported to be effective in treating Dravet syndrome, including cases with an SCN1A mutation. Perampanel may contribute to seizure reduction in patients with intractable epilepsy carrying the SCN1A mutation.

Phenotypic manifestations between male and female children with CDKL5 mutations

BackgroundCyclin-dependent kinase-like 5 (CDKL5), which maps to chromosome Xp22.13 and contains 20 coding exons, has been recognized as the gene responsible for early-onset epileptic encephalopathy (EoEE). A retrospective study is carried out to analyze potential genotypic and phenotypic differences between male and female patients with CDKL5 mutations. Materials and methodsTargeted next-generation DNA sequencing was employed to search for mutations in patients with cryptogenic EE. A total of 44 patients with EoEE/infantile spasms (ISs)/West syndrome were enrolled for pathogenic mutation screening. The clinical phenotypes of patients with CDKL5 mutations were analyzed and compared with those of 166 published cases. ResultsOne novel and three recurrent mutations were found in four enrolled patients (two boys and two girls). One female patient had partial seizures during the early infantile period and epileptic spasms and tonic seizures several weeks thereafter. The other female patient had IS with hypsarrhythmia. The two male patients had IS without typical hypsarrhythmia and were bedridden. Brain MRIs of the male patients revealed brain atrophy and white matter hyperintensity. The female patients exhibited autistic features with hand stereotypies. ConclusionOur study highlights that both girls and boys with IS harbor CDKL5 mutations. Male children with CDKL5 mutations demonstrate a higher frequency of infantile spasms and brain atrophy, whereas female children often exhibit atypical Rett syndrome with EoEE. In addition, male children have a more severe phenotype than female children.

Clinical presentations, Laboratory analysis and Linear Growth in 50 Neonates and Young Infants with Acute Meningitis: One Year Experience of a Single Center in Qatar.

BackgroundMeningitis frequently occurs in neonates and can lead to a number of acute, severe complications and long-term disabilities. Although, long term growth delay and abnormal weight gain appear to be risk factors following an acute attack of both bacterial and aseptic meningitis in children, especially during the fast phase of infantile growth, the long-term effects of acute meningitis occurring during the neonatal and early infantile periods on linear growth (length, weight and head growth) have not fully reported.Aim of the studyThe objective of this study is to describe the clinical presentation of neonates and young infants with acute meningitis with different etiologies and to determine the clinical impact of the effect of acute meningitis on growth parameters.Material and methodsWe analyzed the clinical data and the growth parameters of 50 newborns and young infants (age: 1.6 ± 0.9 months) admitted to our hospital (Al Wakhra Hospital, Department of Pediatrics, Doha, Qatar), between 1-1-2016 to 1-1-2017, with acute meningitis. Anthropometric measurements included weight, length, and head circumference. Length SDS (L-SDS) and body-mass-index (BMI) were calculated and recorded at every clinic visit, every 3 months for 8 ± 2 months.ResultsIn this age group of neonates and young infants with acute meningitis fever (84%) and hypoactivity (64%) were the major presenting manifestations. Acute bacterial meningitis (n: 10) was associated with higher morbidity [shock (n: 1), subdural empyema (n: 1) and hydrocephalus (n: 1)]. Cerebrospinal fluid (CSF) examinations showed that infants with bacterial meningitis had significantly higher pleiocytosis of mainly polymorphic leukocytes and protein levels, compared to those with aseptic meningitis.All infants showed normal linear growth and weight gain during the follow-up period (8 ± 2 months). The annualized growth rate of infants was 25.3 ± 3.5 cm per year. All had normal length standard deviation scores (LSDS) (−0.2 ± 0.9) and none of them had LSDS < −2. All infants had a normal BMI (16.7 ± 1.8 kg/m2). Head circumference growth was normal in 49/50 infants (43.8 ± 1.8 cm) at 8 ± 2 months. One infant developed hydrocephalus after group B streptococcus (GBS) meningitis. There was no statistical difference in linear growth between infants with aseptic and bacterial meningitis.ConclusionAcute bacterial meningitis in newborns and young infants is still associated with considerably high morbidity and complications. Infantile linear growth appears to be normal in all newborns and young infants with both bacterial and aseptic meningitis.

A prospective study on the effects and prevalence of maternal, fetal and placental risk factors on low birth weight neonates

Background: Maternal, foetal and placental risk factors have a causative effect in the prematurity and failure to thrive in the early infantile period. Timely diagnosis helps in the anticipation of complications specific to risk factors and managing by impairing their harmful effects on the growth and development of the baby.Methods: The study was conducted prospectively in Department of Paediatrics, Rajah Muthiah Medical College and Hospital, Chidambaram from January 2018 to June 2018. 361 Low birth weight babies were included. Neonates (n=361) weighing less than 2.5 kilograms with parental informed consent are included, whereas those with severe congenital anomaly, systemic disease or infection were excluded from the study. Various known maternal, placental and foetal risk factors are observed during the course of the study. The gestational age of the neonates was estimated using modified Dubowitz scoring. Other factors like mode of delivery of the babies were also noted. Statistical analysis (descriptive statistics) was done by using Microsoft Word 2010.Results: Out of 1040 babies born from January to July 2018, 341 babies weight less than 2.5 kg. Out of which 162 (44.88%) babies were born preterm. Of the full term births 52% were low birth weights The risk factors of the neonates are not mutually exclusive. In the present study 28 maternal risk factors were studied. The prevalence of maternal, fetal and placental risk factors was 85.32%, 74.79% and 6.65% respectively.Conclusions: Period prevalence of low birth weight babies and prematurity is 34.71% and 15.58% respectively. Risk factors are not independent to each other with maternal and foetal risk factors have almost have an effect on nearly three fourths of low birth weight neonates.

Is kangaroo mother care effective in alleviating vaccination associated pain in early infantile period? A RCT

BackgroundChildhood vaccination is a common procedure and a part of routine medical care during infancy. Although vaccination is the cornerstone for prevention of many infectious diseases, it is associated with significant pain, which is often ignored. Non pharmacological interventions such as breast feeding and kangaroo mother care (KMC) have been used to decrease this procedural pain. However there is paucity of published data on effective use of KMC in term neonates and infants beyond the neonatal age. MethodThis randomized controlled trial included 61 infants ≤14 weeks of postnatal age, and compared KMC to swaddling during vaccination. Neonatal infant pain scale (NIPS) was used to assess the pain associated with vaccination. ResultsNIPS scores at 1 min and 5 min after vaccination and duration of cry were significantly less in the KMC group. ConclusionKMC is effective in reducing vaccination associated pain in young infants.

Dandy-Walker Syndrome in a Child at Rural Kelantan, Malaysia

Dandy-Walker syndrome is a rare congenital malformation of the brain that involves the cerebellum and the fourth ventricle. It is characterised by a classical triad of hydrocephalus, cystic dilatation of the fourth ventricle and complete or partial agenesis of the vermis. Majority of cases are diagnosed during neonatal or early infantile period. In this case report, a seven-year-old boy complained of recurrent headaches for the past one year. Physical examination was unremarkable. Examination of the fundus on the same day revealed bilateral papilloedema. His subsequent computed tomography scan of the brain done at a major district hospital demonstrated features in keeping with Dandy-Walker malformation. Our case highlighted the importance of embarking on a detailed and thorough approach when dealing with a child with chronic headache, especially in rural settings where advanced medical equipment is not readily available.

Clinical features and gene mutation analysis of patients with Niemann-Pick disease type C

Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis. Results: Ten patients suffering from NPC included 5 males and 5 females, aged from 42 days to 14 years when they presented to Tian Tan Hospital. According to their age of neurological onset, 4 were in early infantile period, 2 in late infantile period, 2 in juvenile periods, and the other 2 cases in neonatal period. They all presented with splenomegaly, 5 of 10 accompanied with hepatomegaly. Two cases of neonatal subtype presented mainly with delayed neonatal cholestatic jaundice and hepatosplenomegaly, accompanied with decreased muscle tone and slight psychomotor retardation. The other 8 cases presented with severe neurological involvement, such as progressive encephalopathy, ataxia and language impairment, 4 with dystonia, 3 with decreased muscle tension, 5 with vertical supranuclear gaze palsy, 5 with gelastic cataplexy, and 4 with epilepsy. Eight of 9 cases presented with foam cells in their bone marrow. Head MRI showed diffuse cerebral atrophy in 8 cases, thin corpus callosum in 2 cases, and brain white matter abnormal signals in 2 cases. Among 10 cases, 18 different mutations of NPC1 allelic genes were identified including 11 reported mutations, 3 novel missense mutations: c. 3683T>C (p.Met1128Thr), c.1926G>C (p.Met642Iie) and c. 3006C>G (p.Phe1002Leu), 2 novel nonsense mutation: c. 1142G>A(p.Trp381Ter ) and c. 3229C>T(p.Arg1077Ter), 1 novel minimal deletion mutation: c. 1385-1386del, and 1 novel intron mutation: c. 1757+ 5G>A. In 5 cases, the symptom of gelastic cataplexy was alleviated by imipramine, and the convulsion was relieved by valproate in 2 cases, by carbamazepine in 1 case at the beginning of seizure. During the 25 (3-66) months of follow-up, 4 cases died, the others' neurological symptoms were deteriorated progressively. Conclusions: The NPC1 gene mutation were high heterozygous in this group, and 7 novel mutations enriched the gene mutation spectrum of NPC1. The neurological manifestations were complicated in patients with NPC, and the symptomatology would be different according to their onset age of neurological symptoms. There might be effective symptomatic treatment for gelastic cataplexy by imipramine and for convulsion by valproate or carbamazepine.