Correlation between early computed tomography findings and neurological outcome in pediatric traumatic brain injury patients.

Traumatic brain injury (TBI) is a leading cause of morbidity and mortality in children. Head computed tomography (CT) is frequently utilized for evaluating trauma-related characteristics, selecting treatment options, and monitoring complications in the early stages. This study assessed the relationship between cranial CT findings and early and late neurological outcomes in pediatric TBI patients admitted to the pediatric intensive care unit (PICU). The study included children aged 1 month to 18 years who were admitted to the PICU due to TBI between 2014 and 2020. Sociodemographic data, clinical characteristics, and cranial CT findings were analyzed. Patients were categorized based on their Glasgow Coma Scale (GCS) score. Of the 129 patients, 83 (64%) were male, and 46 (36%) were female, with a mean age of 6.8 years. Falls (n = 51, 39.5%) and in-vehicle traffic accidents (n = 35, 27.1%) were the most common trauma types observed. Normal brain imaging findings were found in 62.7% of the patients, while 37.3% exhibited intracranial pathology. Hemorrhage was the most frequent CT finding. Severe TBI (n = 26, p = 0.032) and mortality (n = 9, p = 0.017) were more prevalent in traffic accidents. The overall mortality rate in the study population was 10.1%. In children with TBI, cranial CT imaging serves as an essential initial method for patients with neurological manifestations. Particularly, a GCS score of ≤ 8, multiple hemorrhages, diffuse cerebral edema, and intraventricular bleeding are associated with sequelae and mortality.

Management of Status Epilepticus by Different Pediatric Departments: Neurology, Intensive Care, and Emergency Medicine.

INTRODUCTION: The aim of this study was to explore the differences in status epilepticus (SE) management among pediatric neurology, emergency medicine, and intensive care specialists in Turkey. METHODS: A 22-item questionnaire regarding first-, second-, and third-line management strategies of SE including demographic characteristics and common etiologies according to the specialty of participants was mailed to 370 specialists working in Turkey. RESULTS: A total of 334 participants (response rate 90%) comprising 136 pediatric neurologists, 102 pediatric emergency medicine specialists, and 96 pediatric intensive care specialists completed the survey. While intensive care specialists frequently managed SE due to metabolic and autoimmune reasons, the most common etiologies encountered by emergency medicine specialists were epilepsy and infections. More than half of the intensive care specialists (64.6%) reported using non-BZD antiseizure medications in the 5th minute of the seizure. Most of the neurologists (76.4%) preferred to administer intravenous (IV) levetiracetam infusion as a second-line agent. About half of intensive care specialists and neurologists tried immunomodulatory therapies in super-refractory SE. Intensive care and emergency medicine specialists were less likely to favor ketogenic diet and pyridoxine therapy for the treatment of super-refractory SE. The rate of requesting EEG monitoring to recognize nonconvulsive SE (NCSE) was found to be very low except for neurologists. CONCLUSION: There was no consensus among neurologists, intensive care specialists, and emergency medicine specialists in the management of SE in Turkey. Familiarity with particular antiseizure medications and the etiologies they manage seem to be the most important factors influencing the attitudes.

Chronic inflammatory demyelinating polyradiculoneuropathy associated with Sjögren`s syndrome in a child.

BACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a peripheral nervous system disease associated with polyautoimmunity. CASE: We report a previously healthy 13-year old boy who was referred to our outpatient clinic with gait disturbance and distal lower limb weakness that had been increasing for six months. The patient had decreased deep tendon reflexes in the upper extremities and absence in the lower extremities, reduced muscle strength in the distal and proximal lower extremities, muscle atrophy, drop foot, and normal pinprick sensations. The patient was diagnosed with CIDP as a result of clinical findings and electrophysiological studies. Autoimmune diseases and infectious agents were investigated in terms of triggering CIDP. Although there was no clinical sign other than polyneuropathy, he was also diagnosed with Sjögren`s syndrome due to positive antinuclear antibodies and antibodies against Ro52, and with autoimmune sialadenitis. After six months of monthly intravenous immunoglobulin and oral methylprednisolone treatments, the patient was able to dorsiflex his left foot and walk without support. CONCLUSIONS: To our knowledge, our case is the first pediatric case with the coexistence of Sjögren`s syndrome and CIDP. Therefore, we suggest investigating children with CIDP in terms of underlying autoimmune diseases such as Sjögren`s syndrome.

Risk of seizure relapse and long-term outcomes after discontinuation of antiseizure medication in children with epilepsy.

OBJECTIVES: The aims of this study were to evaluate the demographic and clinical characteristics of children with epilepsy who discontinued their antiseizure medication (ASM), to determine potential predictors of seizure relapse, to calculate the rate of seizure relapse, and to detect long-term seizure outcomes. METHODS: A total of 269 seizure-free children with epilepsy who were decided to discontinue their ASM and were followed up for at least 18 months after ASM withdrawal were retrospectively evaluated. RESULTS: The enrolled children had been followed up for a median of 46 months (range 18-126 months; IQR: 29-61) after ASM withdrawal and 90 (33.5%) of their seizures relapsed. The median time to seizure relapse was 8 months (range 0.23-117 months; IQR: 2-25). Seizure relapse occurred in 16.7% of the 90 children at 1 month, 45.6% at 6 months, 62.2% at 1 year, 74.4% at 2 years, and 94.4% at 5 years. Univariate logistic regression analyses revealed six predictors significantly related to relapse: age at first seizure, age at diagnosis of epilepsy, intellectual disability, EEG findings after ASM withdrawal, ASM tapering time, and number of seizures on ASM. In multivariate logistic regression analyses, age at first seizure, intellectual disability, and ASM tapering time were not significantly associated anymore. The other three remained independently predictive. Pharmacological control of seizures with monotherapy was restored in 93.3% of the children with seizure relapse. CONCLUSION: This study evaluated potential predictors of seizure relapse, some of which have rarely been evaluated in previous studies. Adolescent age at diagnosis, abnormal EEG findings after ASM withdrawal, and high number of seizures on ASM were associated with a higher risk of seizure relapse. Abnormal MRI findings such as malformations of cortical development and hydrocephalus may be potential biomarkers for the risk of seizure relapse.

Brain Magnetic Resonance Imaging Findings of Pediatric Hemophagocytic Lymphohistiocytosis Could Be Diagnostic and Life-Saving.

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal disease and may also present with central nervous system findings at the beginning without specific diagnostic criteria. Brain magnetic resonance imaging (MRI) findings are diverse and can also be diagnostic. We aimed to emphasize the importance of brain MRI findings in the early diagnosis of this fatal disease. METHODS: MRI findings, clinical presentations, treatment response, and prognosis of seven patients with HLH were described. RESULTS: There were seven pediatric patients who were initially diagnosed with HLH with neurological findings without systemic signs of HLH: four as primary, two as secondary, and one as possible primary HLH. All patients had contrast-enhancing diffuse cerebellar and brainstem lesions; patchy periventricular and callosal cerebral lesions were observed. Thalamus involvement was found in three (42.8%), corpus callosum involvement in six (85.7%), and cervical spinal involvement in one (14.2%). Patients were followed up with these MRI findings, with prediagnoses of toxic, metabolic, infectious, vascular, and demyelinating diseases. Not all patients met the HLH diagnostic criteria due to incomplete systemic/laboratory findings; therefore, only two were immediately directed for hematopoietic stem cell therapy. Four died shortly after admission, one patient could not be followed up after HLH treatment, and two patients who fulfilled the HLH diagnostic criteria underwent hematopoietic stem cell transplantation and survived. CONCLUSIONS: Brain MRI findings, especially in the presence of neurological findings, allow for early diagnosis, which can be life-saving. These common features in brain MRI findings should be evaluated with this suspicion and included in HLH diagnostic criteria.

Comparison of Sublingual and Intramuscular Administration of Vitamin B12 for the Treatment of Vitamin B12 Deficiency in Children.

BACKGROUND: In most countries, contrary to some disadvantages, such as pain, relatively higher cost, and poor adherence to treatment, intramuscular (IM) route is still the primary treatment method for Vitamin B12 (VB12) deficiency. In recent years, because of these difficulties, new treatment methods are being sought for VB12 deficiency. OBJECTIVES: We aimed to compare sublingual (SL) and IM routes of VB12 administration in children with VB12 deficiency and to compare the efficacy of methylcobalamin and cyanocobalamin therapy in these children. METHODS: This retrospective study comprised 129 patients with VB12 deficiency (serum Vitamin 12 level ≤ 200 pg/mL) aged 5-18 years. Based on the formulations of Vitamin 12, we divided the patients into three treatment groups as IM cyanocobalamin, SL cyanocobalamin, and SL methylcobalamin. RESULTS: After Vitamin 12 therapy, serum Vitamin 12 levels increased significantly in all patients, and there was a statistically significant difference between the treatment groups (p < 0.05). CONCLUSIONS: SL cyanocobalamin and methylcobalamin were found as effective as IM cyanocobalamin for children with Vitamin 12 deficiency in correcting serum Vitamin 12 level and hematologic abnormalities.

MRI in CLN2 disease patients: Subtle features that support an early diagnosis.

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, paediatric-onset, neurodegenerative disorder characterised in its early stages by language delay, seizures and loss of motor function. It is rapidly progressive and ultimately results in the premature death of patients. We aim to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and increase disease awareness among clinicians in order to facilitate early diagnosis and treatment of patients with disease-modifying enzyme replacement therapy. We obtained MRI scans from 12 Turkish children with CLN2 disease, at symptom onset or time of diagnosis, and at various times during disease progression. Patient details including age at onset of symptoms, age at diagnosis and clinical presentation were collected. MRIs were analysed to identify common features present in patients with CLN2 disease. The median diagnostic delay in this cohort was 2 years, highlighting the need for increased disease awareness among clinicians. Key MRI features suggestive of CLN2 disease that were identified included cerebellar atrophy in 11 patients, linear hyperintensity of central white matter in 10 patients, cerebral atrophy in 8 patients and thinning of the corpus callosum in 6 patients. Thalamic hypointensity was seen in 1 patient and may also indicate CLN2 disease. It is important to consider the presenting symptoms alongside clinical test results in order to support early diagnosis of CLN2 disease. Clinical suspicion of CLN2 disease accompanied by the detection of any of the above-mentioned features on MRI should encourage healthcare professionals to test for CLN2 disease.

Endocarditis infecciosa de la válvula tricúspide asociada con meningitis aséptica: presentación infrecuente en una niña / Tricuspid valve infective endocarditis associated with aseptic meningitis: a rare presentation in a child

La endocarditis infecciosa es infrecuente pero potencialmente mortal. Las presentaciones atípicas retrasan el diagnóstico. El compromiso neurológico es habitual en la endocarditis de la válvula mitral, aunque infrecuente en la endocarditis de la válvula tricúspide. Si bien se han informado algunos casos e el del lado derecho con síntomas neurológicos en adultos, en la bibliografía no se ha descripto en niños. Se presenta una niña de 9 años con comunicación interventricular (CIV) congénita con fiebre, cefalea y rigidez de nuca. Sus síntomas clínicos y los hallazgos en el líquido cefalorraquídeo respaldaron el diagnóstico de meningitis aséptica. El día 3 del tratamiento con ceftriaxona, se resolvieron los síntomas; tras nueve días, reingresó con fiebre y rigidez de nuca. Un ecocardiograma mostró endocarditis de la válvula tricúspide. Recibió tratamiento antibiótico durante 6 semanas. Se realizó una cirugía cardíaca para la CIV y la insuficiencia de la válvula tricúspide.

Infective endocarditis (IE) is a rare but a potentially life-threatening infectious disease. Atypical presentations cause delays in the diagnosis. Neurological involvement such as meningitis or meningismus, are especially common in mitral valve endocarditis, but unusual in tricuspid valve endocarditis. Although few cases of right-sided IE have been reported with neurological symptoms in adults, children have not been described in literature. A nine-year-old girl with congenital ventricular septal defect (VSD) was admitted with fever, headache and neck stiffness. Her clinical symptoms and cerebrospinal fluid findings supported the aseptic meningitis. On ceftriaxone therapy day 3, her complaints were resolved; nine days later she was admitted with fever and neck stiffness again. Further investigation for fever source with echocardiogram revealed a tricuspid valve endocarditis. Antibiotic therapy was completed after 6 weeks. Cardiac surgery was performed for VSD and tricuspid valvular insufficiency.

Tricuspid valve infective endocarditis associated with aseptic meningitis: a rare presentation in a child. / Endocarditis infecciosa de la válvula tricúspide asociada con meningitis aséptica: presentación infrecuente en una niña.

Infective endocarditis (IE) is a rare but a potentially life-threatening infectious disease. Atypical presentations cause delays in the diagnosis. Neurological involvement such as meningitis or meningismus, are especially common in mitral valve endocarditis, but unusual in tricuspid valve endocarditis. Although few cases of right-sided IE have been reported with neurological symptoms in adults, children have not been described in literature. A nine-year-old girl with congenital ventricular septal defect (VSD) was admitted with fever, headache and neck stiffness. Her clinical symptoms and cerebrospinal fluid findings supported the aseptic meningitis. On ceftriaxone therapy day 3, her complaints were resolved; nine days later she was admitted with fever and neck stiffness again. Further investigation for fever source with echocardiogram revealed a tricuspid valve endocarditis. Antibiotic therapy was completed after 6 weeks. Cardiac surgery was performed for VSD and tricuspid valvular insufficiency.

La endocarditis infecciosa es infrecuente pero potencialmente mortal. Las presentaciones atípicas retrasan el diagnóstico. El compromiso neurológico es habitual en la endocarditis de la válvula mitral, aunque infrecuente en la endocarditis de la válvula tricúspide. Si bien se han informado algunos casos e el del lado derecho con síntomas neurológicos en adultos, en la bibliografía no se ha descripto en niños. Se presenta una niña de 9 años con comunicación interventricular (CIV) congénita con fiebre, cefalea y rigidez de nuca. Sus síntomas clínicos y los hallazgos en el líquido cefalorraquídeo respaldaron el diagnóstico de meningitis aséptica. El día 3 del tratamiento con ceftriaxona, se resolvieron los síntomas; tras nueve días, reingresó con fiebre y rigidez de nuca. Un ecocardiograma mostró endocarditis de la válvula tricúspide. Recibió tratamiento antibiótico durante 6 semanas. Se realizó una cirugía cardíaca para la CIV y la insuficiencia de la válvula tricúspide.

Enfermedad de neuro-Behçet con paquimeningitis en una niña / Neuro-Behçet disease presented with pachymeningitis in a child

La enfermedad de Behçet (EB) es un trastorno de vasculitis sistémica poco frecuente, de etiología desconocida, que se caracteriza por la presencia de aftas bucales, úlceras genitales y uveítis recurrentes. Afecta los sistemas nerviosos central y periférico; raramente se produce durante la niñez. La meningitis aséptica aguda aislada es muy poco frecuente. En este artículo, se describe el caso de una paciente de 14 años con diagnóstico de enfermedad de Behçet con afectación neurológica (neuro-Behçet). La paciente tenía cefalea aguda, diplopia, papiledema e irritación meníngea. Tenía antecedentes de úlceras bucales recurrentes. Las imágenes por resonancia magnética de cerebro revelaron paquimeningitis. Los hallazgos en el líquido cefalorraquídeo fueron pleocitosis y aumento de la presión. Pese al tratamiento médico, sus síntomas no se resolvieron. No se detectó uveítis y la prueba de patergia fue negativa. El alelo HLA-B51 fue positivo. Se consideró que los hallazgos apuntaban a la poco frecuente enfermedad de Behçet con afectación neurológica. La paciente mejoró drásticamente luego del tratamiento con corticoesteroides. En el diagnóstico diferencial de meningitis, se debe considerar la EB, a menos que se demuestre la presencia de un agente infeccioso. Hasta donde sabemos, anteriormente no se había descrito un caso de paquimeningitis con neuro-Behçet en la población pediátrica.

Behçet's disease (BD) is a rare systemic vasculitis disorder of unknown etiology characterized by recurrent oral and genital apthae and uveitis. It involves the central or peripheral nervous system; occurs rarely during childhood. Isolated acute aseptic meningitis is extremely uncommon. We report here a case of Neuro-Behçet disease (NBD) diagnosed in a 14-year-old girl. The patient presented acute headache, diplopia, papilla edema, and meningeal irritation. She had a history of recurrent oral ulcers. Brain magnetic resonance imaging revealed pachymeningitis. Pleocytosis and pressure increase were the cerebrospinal fluid findings. Although medical therapy, her complaints were not resolved. Uveitis was not detected, pathergy test was negative. HLA-B51 allele was positive. The findings were considered to unusual NBD. The patient improved dramatically after steroid therapy. BD should be considered in differential diagnosis of meningitis unless an infectious agent is demonstrated. To our knowledge, a case of pachymeningitis with NBD, was not described in children.

Neuro-Behçet disease presented with pachymeningitis in a child. / Enfermedad de neuro-Behçet con paquimeningitis en una niña.

Behçet's disease (BD) is a rare systemic vasculitis disorder of unknown etiology characterized by recurrent oral and genital apthae and uveitis. It involves the central or peripheral nervous system; occurs rarely during childhood. Isolated acute aseptic meningitis is extremely uncommon. We report here a case of Neuro-Behçet disease (NBD) diagnosed in a 14-year-old girl. The patient presented acute headache, diplopia, papilla edema, and meningeal irritation. She had a history of recurrent oral ulcers. Brain magnetic resonance imaging revealed pachymeningitis. Pleocytosis and pressure increase were the cerebrospinal fluid findings. Although medical therapy, her complaints were not resolved. Uveitis was not detected, pathergy test was negative. HLA-B51 allele was positive. The findings were considered to unusual NBD. The patient improved dramatically after steroid therapy. BD should be considered in differential diagnosis of meningitis unless an infectious agent is demonstrated. To our knowledge, a case of pachymeningitis with NBD, was not described in children.

La enfermedad de Behçet (EB) es un trastorno de vasculitis sistémica poco frecuente, de etiología desconocida, que se caracteriza por la presencia de aftas bucales, úlceras genitales y uveítis recurrentes. Afecta los sistemas nerviosos central y periférico; raramente se produce durante la niñez. La meningitis aséptica aguda aislada es muy poco frecuente. En este artículo, se describe el caso de una paciente de 14 años con diagnóstico de enfermedad de Behçet con afectación neurológica (neuro- Behçet). La paciente tenía cefalea aguda, diplopia, papiledema e irritación meníngea. Tenía antecedentes de úlceras bucales recurrentes. Las imágenes por resonancia magnética de cerebro revelaron paquimeningitis. Los hallazgos en el líquido cefalorraquídeo fueron pleocitosis y aumento de la presión. Pese al tratamiento médico, sus síntomas no se resolvieron. No se detectó uveítis y la prueba de patergia fue negativa. El alelo HLA-B51 fue positivo. Se consideró que los hallazgos apuntaban a la poco frecuente enfermedad de Behçet con afectación neurológica. La paciente mejoró drásticamente luego del tratamiento con corticoesteroides. En el diagnóstico diferencial de meningitis, se debe considerar la EB, a menos que se demuestre la presencia de un agente infeccioso. Hasta donde sabemos, anteriormente no se había descrito un caso de paquimeningitis con neuro-Behçet en la población pediátrica.

High rates of malnutrition and epilepsy: two common comorbidities in children with cerebral palsy

Background/aim: The aim of this study was to evaluate the nutritional status of children with cerebral palsy and determine the particular characteristics of the disorder. Materials and methods: The nutritional status of the children was assessed by the Gomez classification using weight-for-age. The Gross Motor Function Classification System was used to determine the gross and fine motor functions. Results: The study was conducted with 197 children (58.4% males) between the ages of 1 and 18 years old. Asphyxia (44.1%) was the primary etiological factor, and spastic quadriplegia (41.6%) was the most common type of cerebral palsy. Malnutrition was the most frequent comorbidity and the overall malnutrition rate was 76.6%. The most common type of malnutrition was severe malnutrition, which was seen in 70 patients (35.5%). Epilepsy was the second most common comorbidity, seen in 51.7% of the cases. Conclusions: Our results revealed a high rate of malnutrition and epilepsy in children with cerebral palsy. These two more common significant comorbidities that influence the outcomes of children with cerebral palsy should be carefully evaluated and successfully managed. Families of children with cerebral palsy and their physicians should be educated about the nutritional status in these children.

Paroxysmal Tonic Upgaze in Children: Three Case Reports and a Review of the Literature.

BACKGROUND: In clinical practice, nonepileptic paroxysmal events during infancy and childhood are common reasons for parents and caregivers to seek for medical advice. These events are mostly unrecognized and considered as an epileptic seizure because of the clinical features resembling an epileptic seizure. Paroxysmal tonic upgaze, which consists of recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness, is a diagnostic challenge for the pediatrician and pediatric neurologist. In general, the entity was defined as an apparently benign phenomenon with normal investigations and eventual complete resolution of the symptoms, although some authors reported on patients with associated neurologic signs, such as ataxia, developmental delay, and abnormal brain magnetic resonance imaging finding. METHODS: The patients were 3 children (1 boy and 2 girls) who were between 5 and 18 months old experiencing rapid ocular movements with sustained conjugate upward deviation of the eyes. Their attacks, which were recorded using a video or electroencephalogram system, were also investigated comprehensively, including neurologic examination, electroencephalograms, brain magnetic resonance imaging, and metabolic tests. Paroxysmal tonic upgaze attacks have decreased in number or disappeared in 2 patients, but 1 patient exhibited mild abnormalities on magnetic resonance imaging and had relatives with epilepsy. CONCLUSIONS: In conclusion, paroxysmal tonic upgaze is an apparently benign phenomenon with unclear pathophysiology of various proposed mechanisms such as genetic predisposition, immaturity of the brain stem, neurotransmitter depletion, or immune dysregulation. It is important to recognize the clinical presentation of paroxysmal tonic upgaze and distinguish the disorders from epilepsy for deciding the treatment and prognosis of the patients.

Occult Disseminated Tuberculosis with Holocord Longitudinally Extensive Transverse Myelitis: A Rare Phenomenon in a Child.

Longitudinally extensive transverse myelitis (LETM) is defined as an inflammatory lesion of the spinal cord that extends to three or more segments. LETM is a commonly characteristic feature of neuromyelitis optica (NMO) or various autoimmune diseases. Manifestation of Mycobacterium tuberculosis (MTB) infection with LETM are rare and usually in the cervicothoracic spinal cord. Our patient presented with holocord LETM, so NMO was considered initially diagnosis. After in further research, MTB was diagnosed and treated successfully. The current case underscores that tuberculosis must be keep in mind when undertaking differential diagnosis of demyelinating diseases even in the absence of symptoms of infection, and especially in endemic regions.

Facial Palsy in Cerebral Venous Thrombosis: An Atypical Case in a Young Girl.

Cerebral venous thrombosis (CVT) is a rare and potentially life-threating cause of stroke. A number of etiologies and risk factors for CVT have been identified so far. These include head trauma, local and systemic infectious diseases, malignancies, autoimmune diseases, and oral contraceptive use. The most common clinical symptoms are headache and changes in consciousness. Cranial nerve palsy in CVT is uncommon, and there are very few reports of facial nerve palsy. This case report highlights an atypical manifestation in a CVT patient, who presented with peripheral facial palsy. The patient was successfully treated with anticoagulation.

Can High-Dose Levetiracetam Be Safe? A Case Report of Prolonged Accidental High-Dose Levetiracetam Administration and Review of the Literature.

Levetiracetam is an antiepileptic drug that has been used both as adjunctive therapy and monotherapy in pediatric patients with epilepsy. We report a patient with cerebral palsy and epilepsy who took 200 mg/kg per day of levetiracetam for 55 days with no apparent adverse effects. Four other cases of accidental overdose were found in the literature; none of these was associated with any apparent adverse effects. These findings suggest that, in at least some cases, levetiracetam doses much higher than the recommended maximum of 60 mg/kg per day can be administered without apparent adverse effects.

A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene.

Galactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal ß-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with early infantile galactosialidosis who was born at 35 weeks of gestation. After birth she remained at the neonatal intensive care unit. Physical examination revealed, coarse facial features, hepatomegaly, cardiac murmur and diffuse hypotonia. The patient's mother had a past history of fetal hydrops history. The diagnosis of galactosialidosis was confirmed by decreased activity of ß-galactosidase and undetectable neuraminidase activity in fibroblasts. Genetic examination revealed a new homozygous mutation (c.1284delG) in the CTSA gene.