scholarly journals 'Hallervorden-Spatz syndrome - infantile neuroaxonal dystrophy' complex: case report

1988 ◽  
Vol 46 (1) ◽  
pp. 69-72 ◽  
Author(s):  
A. U. Bresolin ◽  
L. Pascuzzi ◽  
R. Melaragno Filho ◽  
Maria H. Fontana ◽  
R. Pécora ◽  
...  
Keyword(s):  
Case Report ◽  
Cerebral Atrophy ◽  
Neuroaxonal Dystrophy ◽  
Complex Case ◽  
Pathological Examination ◽  
Infantile Neuroaxonal Dystrophy ◽  
Axonal Spheroids ◽  
Mental Deterioration ◽  
One Year ◽  
Red Coloration

Case report of a 7 1/2-years old girl considered as being normal until the age of 2 years. From then on she progressed with gait disturbance, mental deterioration, dystonic movements, convulsions and dysarthria. She died of bronchopneumonia one year later. CT scan showed hyperdensity at the putamina, with no signs of cerebral atrophy. Pathological examination disclosed an intense red coloration of the putamina and axonal «spheroids» at electron microscopy.

scholarly journals Fetal neuroaxonal dystrophy: a new etiology of fetal akinesia

2018 ◽  
Vol 45 (S1) ◽  
pp. S3-S4
Author(s):  
C. Fallet-Bianco ◽  
B. Hargitai ◽  
P. Bonasoni ◽  
F. Guimiot ◽  
M.T. Yacoubi
Keyword(s):  
Pregnancy Termination ◽  
Age Groups ◽  
Molecular Study ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Term Neonates ◽  
Axonal Spheroids ◽  
Phenotypic Spectrum ◽  
Associated Malformations ◽  
Cns Malformations

Neuroaxonal Dystrophies (NAD) are neurodegenerative diseases characterized by axonal “spheroids” occurring in different age groups. The identification of mutations delineated new molecular entities in these disorders. We report neuropathological data of a new form of NAD, characterized by a precocious prenatal onset, different from classical and connatal Infantile Neuroaxonal Dystrophy (INAD).We studied 5 fetuses examined after pregnancy termination and 2 term neonates deceased just after birth, 4/7 from consanguineous parents. All subjects presented severe fetal akinesia sequence with microcephaly. In 4/7 cases, a molecular study was performed. In all cases, “spheroids” with typical immunohistochemical features were identified, with variable spreading in the central and peripheral nervous system. Basal ganglia, brainstem, cerebellum and spinal cord involvement was constant. Associated CNS malformations, unusual in INAD, were associated including hydrocephalus (2), callosal agenesis/hypoplasia (2), olfactory agenesis (1), cortical (3) and retinal (1) anomalies. None cases demonstrated mutations in PLA2G6, found in INAD.The clinical and neuropathological features of these fetal cases are different from those of “classical” INAD. The absence of mutations of PLA2G6, in addition, suggests that the fetal NAD is a new entity, distinct from INAD, with different molecular basis. Associated malformations suggest a wide phenotypic spectrum and probable genetic heterogeneity. Finally, fetal NAD is an additional etiology of fetal akinesia.

scholarly journals Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Liena E. O. Elsayed ◽  
Inaam N. Mohammed ◽  
Ahlam A. A. Hamed ◽  
Maha A. Elseed ◽  
Mustafa A. M. Salih ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Neuroaxonal Dystrophy ◽  
Site Mutation ◽  
Infantile Neuroaxonal Dystrophy

Siblings with Infantile Neuroaxonal Dystrophy

2020 ◽  
Author(s):  
Pulkit Agarwal ◽  
Jyotindra Narayan Goswami
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Febrile Illness ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Motor Delay ◽  
Developmental Regression ◽  
Female Sibling ◽  
History Of

AbstractA 2 years 3 months male toddler with motor delay and his female sibling with history of marked global developmental regression following an intercurrent febrile illness were both noted to have phospholipase A2G6 (PLA2G6) mutation, confirming the diagnosis of infantile neuroaxonal dystrophy (INAD). This case report attempts to familiarize readers with the pleomorphic presentation of INAD and the role of early clinical identification, examination, and prompt genetic testing in establishing a diagnosis.

scholarly journals Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review

2016 ◽  
Vol 12 (5) ◽  
pp. 3387-3389 ◽  
Author(s):  
Haifeng Li ◽  
Yan Zou ◽  
Xinhua Bao ◽  
Hui Wang ◽  
Jiangping Wang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Monozygotic Twins ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy

Atypical Infantile neuroaxonal dystrophy: a case report

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
J Pietz ◽  
E Schuler ◽  
KS Kang ◽  
B Assmann
Keyword(s):  
Case Report ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report

2015 ◽  
Vol 37 (2) ◽  
pp. 270-272 ◽  
Author(s):  
Daniele Frattini ◽  
Nardo Nardocci ◽  
Rosario Pascarella ◽  
Celeste Panteghini ◽  
Barbara Garavaglia ◽  
...  
Keyword(s):  
Case Report ◽  
Neuroaxonal Dystrophy ◽  
Downbeat Nystagmus ◽  
Infantile Neuroaxonal Dystrophy

scholarly journals Fetal neuroaxonal dystrophy: a further etiology of fetal akinesia

2021 ◽  
Vol 48 (s1) ◽  
pp. S4-S4
Author(s):  
C Fallet-Bianco ◽  
B Hargitai ◽  
P Bonasoni ◽  
F Guimiot ◽  
MT Yacoubi
Keyword(s):  
Pregnancy Termination ◽  
Age Groups ◽  
Molecular Study ◽  
Neuroaxonal Dystrophy ◽  
List Type ◽  
Fetal Life ◽  
Infantile Neuroaxonal Dystrophy ◽  
Axonal Spheroids ◽  
Phenotypic Spectrum ◽  
Associated Malformations

Neuroaxonal Dystrophies (NAD) are neurodegenerative diseases characterized by axonal “spheroids” occurring in different age groups. The identification of mutations delineated new molecular entities in these disorders. We report neuropathological data of a new form of NAD, characterized by a precocious prenatal onset, different from classical and conatal Infantile Neuroaxonal Dystrophy (INAD).We studied 5 fetuses examined after pregnancy termination and 2 term neonates deceased just after birth, 4/7 born from consanguineous parents. All subjects presented severe fetal akinesia sequence with microcephaly. In 4/7 cases, a molecular study was performed. In all cases, “spheroids” with typical immunohistochemical features were identified, with variable spreading in the central and peripheral nervous system. Basal ganglia, brainstem, cerebellum, and spinal cord involvement was constant. Associated CNS malformations, unusual in INAD, were associated including hydrocephalus (2), callosal agenesis/hypoplasia (2), olfactory agenesis (1), cortical (3) and retinal (1) anomalies. None of the cases demonstrated mutations in PLA2G6, found in INAD. The clinical and neuropathological features of these fetal cases are different from those of “classical” INAD. The absence of mutations in PLA2G6, in addition, suggests that the fetal NAD is a new entity, distinct from INAD, with different molecular basis. Associated malformations suggest a wide phenotypic spectrum and probable genetic heterogeneity. Finally, fetal NAD is an additional etiology of fetal akinesia.LEARNING OBJECTIVESThis presentation will enable the learner to:Diagnose this rare form of neuroaxonal dystrophy (NAD) occurring precociously, in the fetal life, as soon as the second trimester, different from the infantile form of NAD. 1.Describe the phenotypic spectrum of this fetal NAD; fetal akinesia sequence, microcephaly and various brain malformations, different from the “classical” and conatal forms of infantile neuroaxonal dystrophy.2.Consider this etiology in the diagnosis of fetal akinesia sequence.

Case Report: A New Spectroscopy Finding in Infantile Neuroaxonal Dystrophy

2018 ◽  
Vol 17 (05) ◽  
pp. 180-183
Author(s):  
Andrew Martin ◽  
Saharwash Jamali ◽  
Natasha Redhead ◽  
Paul Armitage ◽  
Archana Desurkar ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Basal Ganglia ◽  
Female Patient ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Cerebellar Vermis ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Motor Delay

AbstractInfantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive disorder that is associated with developmental delay and regression. A female patient of consanguineous parents presented with gross motor delay at 15 months. She was known to have two paternal uncles who had died with a diagnosis of INAD. Over the next 15 months, she exhibited regression in several domains and following genetic testing was diagnosed with a PLA2G6 mutation in keeping with INAD. The cerebellar vermis demonstrated a significant reduction in the N-acetylaspartate/creatinine (NAA/Cr) ratio of 0.69. This case highlights what we believe to be a new imaging feature of a low NAA/Cr ratio in the cerebellar vermis with normal ratios in the cerebellar hemispheres and basal ganglia in a patient with genetically confirmed diagnosis of INAD.

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