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Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14). NCL is a part of the lysosomal disease characterized by the presence of neuronal and extraneural autofluorescent lipopigment accumulations that leads to motor and mental deterioration, developmental regression, seizure, vision loss, and premature death. NCL is classified into four main groups based on the different clinical manifestations and age of presentation. In this study, we aimed to report an unusual presentation of NCL with CLN6 mutation without retina involvement.

We reported a 10-year-old boy with mixed types of seizures, developmental delay, cognitive problems, unsteady gait, and speech disorders. Although after a thorough assessment, CLN6 mutation was diagnosed, he had all symptoms of this mutation, except the visual impairment.

According to recent NCL case reports from Asia, full familiarity with its presentation by pediatricians and neurologists is obligatory. Children with developmental regression or refractory seizures, who also have visual or other neurological symptoms such as ataxia and other cerebellar symptoms, even at older ages, should be evaluated for NCL. Attention to ophthalmological examinations and neurological signs and confirming the diagnosis by biopsy or genetic analysis is desirable to prevent missed diagnosis.

Thyroid disorder is one of the main endocrine problems in childhood. In children with thyroid disorders, goiter is common. 

In this mini-review, the authors aimed to present total insights on goiter in children. 

This is a mini-review about total insights on goiter in children. This review included articles assessing goiter in children. Web of Science, PubMed, and Google Scholar were investigated to find appropriate articles regarding goiter in children from 1988 to 2021. The keywords were thyroid, goiter, hyperthyroidism, hypothyroidism, and thyroid nodule. The authors included all study types assessing the pathophysiology, evaluation, and treatment of goiter in childhood. 

Through taking the medical history and performing a physical examination, clinicians can differentiate types of goiter, including diffuse or nodular toxic or non-toxic, which can present themselves in euthyroid, hypothyroid, and hyperthyroid states. When taking a medical history, clinicians have to ask patients about their food intake, place of residence, and nutrient deficiencies to abstain from goitrogens. Diverse treatment methods are required for goiter in euthyroidism, hypophyroidism, and hyperthyroidism. In patients with euthyroidism, whenever there is iodine deficiency, a history of irradiation to the neck, or Hashimoto’s disease, suppressive therapy is needed. Both clinical and subclinical hypothyroidism need levothyroxine. Besides, in hyperthyroidism, antithyroid drugs, iodine therapy, or surgery are needed. Both clinical and subclinical hypothyroidism need levothyroxine.

In hyperthyroidism, antithyroid drugs, iodine therapy, or surgery are needed. Based on the importance of managing goiter in children, clinicians have to consider food intake, vitamin deficiency, and iodine status in these patients.

Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters. Increased lactate to pyruvate ratio and decreased 3 hydroxybutyrate to acetoacetate are the main biochemical features of PCD. The elevated level of Citrulline, Proline, and Lysine with a short life span has been reported previously. Patients’ survival in almost all cases is below three months.  Here, the authors aimed to report a girl with manifestations of Type B of PCD and longer survival (two-year and four-month-old). This patient did not have any changes in amino acid level which was a unique case of Type B of PCD.

Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults.

An 11 months old boy was referred to the hospital due to clinical presentations of productive cough seizure, mental disability, and ataxia. Magnetic Resonance Imaging (MRI), Electroencephalography (EEG), hematology, biochemistry, hormone, and genetic tests were done. Triplet repeat PCR (TP PCR) showed 99 CGG repeats as permutation alleles.

In this study, the authors reported the early onset of FXTAS in an 11 months old boy for the first time.