La sindrome di Aicardi-Goutières

We describe the clinical and neuroradiological features of eleven patients with Aicardi-Goutières syndrome, a rare and severe progressive encephalopathy with onset in the first year of life. The syndrome is autosomal recessive with varying clinical presentation and course. Our patients were studied by CT and MR imaging and findings were in agreement with literature reports. Calcification of the basal nuclei was found in 100% of cases and six patients presented a progressive increase in the number and size of the calcifications which were bilateral and largely symmetrical. White matter changes were seen in 76% of cases without a specific pattern of distribution. Early neuroradiological diagnosis of suspect Aicardi-Goutières syndrome is established by ruling out other pathological processes and the site and features of the calcifications rather than the white matter changes is important to then search for typical CSF changes.

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VITAMIN D DEPENDENCY: AN INHERITED POSTNATAL SYNDROME WITH SECONDARY HYPERPARATHYROIDISM

PEDIATRICS ◽

10.1542/peds.46.6.871 ◽

1970 ◽

Vol 46 (6) ◽

pp. 871-880

Author(s):

C. Arnaud ◽

R. Maijer ◽

T. Reade ◽

C. R. Scriver ◽

D. T. Whelan

Keyword(s):

Vitamin D ◽

Autosomal Recessive ◽

Hypophosphatemic Rickets ◽

First Year ◽

Tubular Dysfunction ◽

Renal Tubular Dysfunction ◽

Recessive Trait ◽

Daily Allowance ◽

Renal Tubular ◽

First Year Of Life

Three French-Canadian children in a large inbred pedigree each developed hypocalcemic, hypophosphatemic rickets in the latter half of their first year of life; there were also manifestations of generalized renal tubular dysfunction. These abnormalities, which mimic advanced Vitamin D deficiency, disappeared only when Vitamin D2 or D3 was given at about 100 times the recommended daily allowance; this indicated the diagnosis of Vitamin D dependency. Enamel hypoplasia was a prominent clinical finding; only those teeth which calcify postnatally were affected, indicating that the condition found does not affect Vitamin D-dependent nutrition in utero. The level of parathyroid hormone was elevated in serum before treatment; it fell to normal either after treatment with Vitamin D, or during intravenous infusion with a calcium solution sufficient to produce hypercalcemia. Vitamin D dependency appeared to be inherited as an autosomal recessive trait in this pedigree, but we could observe no phenotypic signs in presumably obligate heterozygotes. One of the three cases in the pedigree arose from outbreeding, suggesting that the mutant allele is probably not particularly rare in the population under our surveillance.

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White Matter Development from Birth to 6 Years of Age: A Longitudinal Study

Cerebral Cortex ◽

10.1093/cercor/bhaa170 ◽

2020 ◽

Vol 30 (12) ◽

pp. 6152-6168

Author(s):

Rebecca L Stephens ◽

Benjamin W Langworthy ◽

Sarah J Short ◽

Jessica B Girault ◽

Martin A Styner ◽

...

Keyword(s):

Individual Differences ◽

White Matter ◽

Diffusion Tensor ◽

First Year ◽

Imaging Data ◽

White Matter Microstructure ◽

White Matter Development ◽

Psychiatric Outcomes ◽

First Year Of Life ◽

Diffusion Tensor Imaging Data

Abstract Human white matter development in the first years of life is rapid, setting the foundation for later development. Microstructural properties of white matter are linked to many behavioral and psychiatric outcomes; however, little is known about when in development individual differences in white matter microstructure are established. The aim of the current study is to characterize longitudinal development of white matter microstructure from birth through 6 years to determine when in development individual differences are established. Two hundred and twenty-four children underwent diffusion-weighted imaging after birth and at 1, 2, 4, and 6 years. Diffusion tensor imaging data were computed for 20 white matter tracts (9 left–right corresponding tracts and 2 commissural tracts), with tract-based measures of fractional anisotropy and axial and radial diffusivity. Microstructural maturation between birth and 1 year are much greater than subsequent changes. Further, by 1 year, individual differences in tract average values are consistently predictive of the respective 6-year values, explaining, on average, 40% of the variance in 6-year microstructure. Results provide further evidence of the importance of the first year of life with regard to white matter development, with potential implications for informing early intervention efforts that target specific sensitive periods.

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Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

Neuropediatrics ◽

10.1055/s-0039-3402010 ◽

2020 ◽

Vol 51 (03) ◽

pp. 229-232

Author(s):

J. Micallef ◽

S. Stockler-Ipsiroglu ◽

C.D. van Karnebeek ◽

R. Salvarinova-Zivkovic ◽

G. Horvath

Keyword(s):

Amino Acid ◽

Inborn Error ◽

Autosomal Recessive ◽

Global Developmental Delay ◽

Acid Decarboxylase ◽

First Year ◽

Amino Acid Decarboxylase ◽

History Of ◽

First Year Of Life ◽

Decarboxylase Deficiency

AbstractAromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. Rhabdomyolysis can become life-threating and therefore its recognition and prompt management is of significant importance. Here we present two cases of patients with AADC deficiency and a history of dystonic crisis causing rhabdomyolysis. We hypothesize that in addition to the hypodopaminergic, a hypercholinergic state is contributing to the pathophysiology of dystonia in AADC deficiency, as well as to the associated rhabdomyolysis. We were able to prevent rhabdomyolysis in both patients with using Dantrolene and we suggest using a trial of this medication in cases of sustained dystonic crisis in AADC deficiency patients.

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Specific pattern of early white-matter changes in pure hereditary spastic paraplegia

Movement Disorders ◽

10.1002/mds.23211 ◽

2010 ◽

Vol 25 (12) ◽

pp. 1986-1992 ◽

Cited By ~ 21

Author(s):

Thomas Duning ◽

Tobias Warnecke ◽

Anja Schirmacher ◽

Hagen Schiffbauer ◽

Hubertus Lohmann ◽

...

Keyword(s):

White Matter ◽

Hereditary Spastic Paraplegia ◽

Specific Pattern ◽

Spastic Paraplegia ◽

White Matter Changes

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Epidemiological profile of childhood deaths caused by intercurrences of epilepsy in Brazil between 2010 and 2019

10.5327/1516-3180.036 ◽

2021 ◽

Author(s):

Laura Fogaça Pasa ◽

Bianca Brinques da Silva ◽

Stephan Kunz ◽

Rafaela Boff ◽

Antonio Pacheco ◽

...

Keyword(s):

Progressive Increase ◽

First Year ◽

Publicly Funded ◽

Death Rates ◽

Infant Deaths ◽

The North ◽

Neurologic Disorders ◽

Epilepsy Diagnosis ◽

Epidemiological Profile ◽

First Year Of Life

Background: Epilepsy is one of the most common neurologic disorders among children, with a higher incidence in the first year of life. An accurate epilepsy diagnosis is essential for a proper treatment. Objectives: To assess the rates of childhood deaths from epilepsy in Brazil. DESIGN AND SETTING: Descriptive documentary study based on data from 2010 to 2019 in Brazil. Methods: Evaluating data provided by DATASUS, the information department of Brazil’s publicly funded health care system (SUS). Results: 238 infant deaths due to epilepsy were documented in Brazil during the studied period. The Southeast region had the highest rates, representing 31.51% of the total deaths, followed by the Northeast region, 29.83%, the South region, 18.91%, and the North region, 11.34%. Considering the population in each region, the North had the highest relative rates, followed by the Midwest, Northeast, South and Southeast regions. In the years 2017, 2018 and 2019 the highest death rates were documented, a total of 93 (39.08%). Regarding gender, boys had more deaths, 142 (59.66%) and girls 96 (40.34%). The most affected color / race was white, 133 deaths (55.88%), followed by brown, 79 (33.19%). Blacks and Indians registered the lowest rates, 2.52% each. Conclusion: A predominance of infant deaths due to epilepsy is noticed in the North, which points to the need for greater investment in health in this region, since there was a progressive increase in mortality. It was also found that the male gender and white color are risk factors for complications of the disease.

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Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency

BMJ Case Reports ◽

10.1136/bcr-2021-246431 ◽

2022 ◽

Vol 15 (1) ◽

pp. e246431

Author(s):

Kiran Vemireddy ◽

Nalinikanta Panigrahy ◽

Lokesh Lingappa ◽

Dinesh Chirla

Keyword(s):

Autosomal Recessive ◽

Methylenetetrahydrofolate Reductase ◽

Coenzyme Q ◽

Progressive Increase ◽

Homozygous Mutation ◽

Progressive Encephalopathy ◽

Central Hypoventilation ◽

Metabolic Screening ◽

Male Neonate ◽

Mthfr Deficiency

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive inherited inborn error of metabolism, which presents with various severity depending on the level of residual enzyme activity. In neonates, it can present with recurrent hypoventilation episodes, persistent encephalopathy with or without microcephaly. MTHFR deficiency also results in hyperhomocysteinemia, homocystinuria and hypomethionemia. We report a male neonate with severe MTHFR deficiency presenting to us on third week of life with progressive encephalopathy, microcephaly, seizures, central hypoventilation. There was similar history in the previous sibling. The patient’s blood lactate, ammonia, tandem mass spectrometry for amino acids and acyl carnitine were normal. He remained encephalopathic with progressive increase in need of respiratory support in spite of supportive treatment and metabolic cocktail consisting of riboflavin, pyridoxine, coenzyme Q and carnitine. This neonate had novel homozygous mutation, which results in MTHFR deficiency. In newborn with hypoventilation or recurrent apnoea with encephalopathy and microcephaly, MTHFR deficiency should be considered as a differential diagnosis. Mutation study helps in confirming diagnosis; however, extended newborn metabolic screening with homocysteine level could help in early diagnosis of these cases.

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STUDIES IN SICKLE CELL ANEMIA

PEDIATRICS ◽

10.1542/peds.14.3.209 ◽

1954 ◽

Vol 14 (3) ◽

pp. 209-214

Author(s):

ROLAND B. SCOTT ◽

LELABELLE C. FREEMAN ◽

ANGELLA D. FERGUSON

Keyword(s):

Sickle Cell ◽

Sickle Cell Anemia ◽

Sickle Cell Trait ◽

Age Groups ◽

Test Group ◽

Progressive Increase ◽

First Year ◽

Older Children ◽

Low Incidence ◽

First Year Of Life

This survey of 1100 Negro children in various age categories was undertaken to determine the effect of age upon the appearance of the sickling phenomenon from infancy throughout childhood. The general incidence of sickling in 1100 Negro children including sickle cell anemia and sickle cell trait was 7.4%. The data on the incidence of the asymptomatic sickling trait and of sickle cell anemia are summarized by age and sex in Tables I and II. We encountered 22 cases of sickle anemia, seven of which were previously undiagnosed and unknown. Sixteen cases of sickle cell anemia in males and six in females were encountered in the total test group, comprising 651 males and 449 females. This investigation disclosed 60 subjects bearing the asymptomatic sickling trait. There were 40 and 20 instances of asymptomatic sickling observed in 635 males and 443 females, respectively. When the sexes were divided into two age categories (1 month through 4 years and 5 years through 16 years), there was an actual decrease in the incidence of sickling in the girls and an increase in the sickling phenomenon in the boys. We have no explanation for this finding. The overall incidence of the sickling trait for both sexes in all age groups represents no significant deviation from a 1:1 ratio. The data available from this study failed to disclose a definite progressive increase in the incidence of sickling in the age groups studied. Quantitatively the general transition from the low incidence of sickling in the newborn (3.4%) to the higher occurrence in older children (7.5%) apparently takes place during the first year of life. Additional studies of both a qualitative and quantitative nature and involving a detailed age breakdown during the first year of life would probably elucidate this period of transition.

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Spatiotemporal dynamics of nonhuman primate white matter development during the first year of life

NeuroImage ◽

10.1016/j.neuroimage.2021.117825 ◽

2021 ◽

Vol 231 ◽

pp. 117825

Author(s):

Nakul Aggarwal ◽

Jason F. Moody ◽

Douglas C. Dean ◽

Do P.M. Tromp ◽

Steve R. Kecskemeti ◽

...

Keyword(s):

White Matter ◽

Nonhuman Primate ◽

Spatiotemporal Dynamics ◽

First Year ◽

White Matter Development ◽

First Year Of Life

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A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab

Case Reports in Rheumatology ◽

10.1155/2013/795027 ◽

2013 ◽

Vol 2013 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

Elena Tsitsami ◽

Charis Papadopoulou ◽

Matthaios Speletas

Keyword(s):

Autosomal Recessive ◽

Mutational Analysis ◽

First Year ◽

Kinase Gene ◽

Inflammatory Drugs ◽

First Year Of Life ◽

Length Analysis ◽

Mevalonate Kinase Gene

Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, noMVKmutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of theMVKgene. The method ofMVKmutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4 mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients’ quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed.

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