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a Decreased melanin granule is observed in pars compacta of the substantia nigra (hematoxylin–eosin staining; ×100). b The presence of characteristic axonal swelling of Purkinje cells (torpedoes) (neurofilament; ×100). c Similar axonal swelling of Purkinje cells is seen in the molecular layer (Bodian; ×200)
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We present here a long survival case of a patient with the mosaic form of trisomy 13 who died of aspiration pneumonia at the age of 7 years and 4 months. The autopsy revealed olfactory aplasia and fenestration of the septum pellucidum, and dilated lateral ventricles and atrophic hippocampus. Furthermore, there were numerous "torpedos" (i.e., swolle...
Citations
... Karyotyping was performed to rule out a Robertsonian translocation. The chromosomal studies of the patient revealed 47,XX,+13 [10]/46,XX[90], confirming mosaic trisomy 13 ( Figure 2 A and B). Parental karyotypes were done and revealed normal studies. ...
Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.
... torpéd. Pojem torpédo sa používa na popis rozšírenia axónov Purkyňových buniek, ktoré sa však môžu vyskytovať pri mnohých iných metabolických a degeneratívnych mozočkových ochoreniach (18,19). Samotná ektopia Purkyňových buniek nie je patognomická pre NCL, nakoľko sa môže vyskytovať aj pri iných chorobných stavoch (granular layer aplasia (19,20). ...
... Pojem torpédo sa používa na popis rozšírenia axónov Purkyňových buniek, ktoré sa však môžu vyskytovať pri mnohých iných metabolických a degeneratívnych mozočkových ochoreniach (18,19). Samotná ektopia Purkyňových buniek nie je patognomická pre NCL, nakoľko sa môže vyskytovať aj pri iných chorobných stavoch (granular layer aplasia (19,20). Z tohto pohľadu je pre predbežnú diagnózu NCL najdôležitejšia prítomnosť intracelulárneho autofluorescentného pigmentu, pre záverečnú diagnózu genetické vyšetrenie. ...
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders with clinical presentation predominantly in the childhood. The NCLs represent lysosomal storage disorders characterized by the accumulation of autofluorescent lipopigment storage material. The most common clinical features include development failure, psychomotor regression, seizures, and progressive loss of vision. We present a case of neuronal ceroid lipofuscinosis with cardiac involvement diagnosed post-mortem in a 9,5-year-old boy, whose clinical symptomatology comprised partial epilepsy, psychomotor decline and sinus bradycardia. In contrast to ventricular hypertrophy, being more frequently associated with NCLs, we discovered cardiac atrophy. Histologic examination of the heart revealed not only the lipofuscinosis affecting cardiac conducting cells and cardiomyocytes, but also basophilic degeneration of myocardium.
... La trisomía 13 fue identificada por Patau, et al. en 1960 3,6,10,11 . No presenta predominio por sexo y se encuentra en el 1% de los abortos espontáneos (100 veces más que en los nacidos vivos) 3 . ...
... La tasa de mortalidad es aproximadamente del 50% en el primer mes de vida y del 90% durante el primer año debido a la severidad de las alteraciones en el sistema nervioso central, cardiopatías congénitas y complicaciones respiratorias 10 . En comparación con la forma completa, la expresividad variable en el mosaicismo de trisomía 13 puede incluir, además, pigmentación cutánea inusual y mayor supervivencia. ...
Background:
Trisomy 13 is a chromosomal alteration with an incidence of 1 in 10,000 to 20,000 births. It can occur completely, partially or in mosaicism; the latter occurs when a percentage of cells are trisomic for chromosome 13, while the rest are euploid in an individual and corresponds to only 5% of all cases. Patients with trisomy 13 present a wide variable expressivity, ranging from severe malformations with early death (phenotype similar to the complete form and more frequent), to normal development and few dysmorphic findings.
Case reports:
The clinical and cytogenetic findings of two new cases of trisomy 13 mosaicism are described.
Conclusions:
The importance of prenatal diagnosis, clinical findings, and interdisciplinary medical evaluation is highlighted, as well as an appropriate genetic counseling.
... A report of a 7-year-old boy with mosaic trisomy 13 who underwent MRI examination demonstrated ventriculomegaly, hypoplasia of the septum pellucidum, and thinning of the splenium of the corpus callosum. 11 Another report of an 11-year-old survivor with trisomy 13 briefly described computed tomography findings including mild cortical and cerebellar vermis superior atrophy. 12 Our case of a 2-year-old girl with trisomy 13 demonstrated relatively mild morphological CNS manifestations of this syndrome, including cerebellar dysmorphism, corpus callosum hypoplasia, abnormal ventricular morphology, microphthalmia, and persistent hyperplastic primary vitreous. ...
Patau syndrome remains a difficult diagnosis for parents and a challenging conversation for clinicians due to the overall poor prognosis. Previous population-based reports have documented the sobering life expectancies of these patients, with few surviving to 1 year of age. Despite the high mortality rate in infants born with trisomy 13, there are several reports of survival into late childhood and early adulthood. While clinical outcomes have been well documented, there has been a paucity of literature describing postnatal imaging findings in long-term survivors. We present a case report of a 2-year-old girl with trisomy 13 who underwent brain magnetic resonance imaging examination at our institution to evaluate for possible structural abnormalities contributing to central sleep apnea. We describe the clinical and postnatal neuroimaging findings of this rare patient with trisomy 13. Understanding the spectrum of neuroradiological findings in long-term survivors with trisomy 13, in combination with other organ system abnormalities, could add important clinical information and help better predict patient outcomes and expectations among parents.
... Therefore, non-intervention approach in the management of trisomy 13 is traditionally reflected in the past literature 3,4 . On the other hand, long survival cases of trisomy 13 were recently reported and is argued to follow more conventional medical treatment for trisomy 13 [1][2][3][4][5][6] . We present a case of Robertsonian type of trisomy 13 who recovered after the therapy with mild brain hypothermia in intensive European Review for Medical and Pharmacological Sciences Treatment with mild brain hypothermia for cardiopulmonary resuscitation after myoclonic seizures in infant with robertsonian type of trisomy 13 care unit of our hospital due to cardiopulmonary resuscitation following epileptic seizures. ...
Congenital chromosomal abnormality with trisomy 13 is known to be associated with poor life prognosis and lethal. Therefore, physician advice the patients be kept in intensive treatment with resuscitation and state of the art intensive care when sudden change in the general condition with this trisomy is observed. We report herein, the treatment with mild brain hypothermia therapy for cardiopulmonary resuscitation after myoclonic seizures in infant with Robertsonian type of trisomy 13 in intensive care unit. Our study indicated that brain hypothermia therapy and steroid pulse therapy on an infant who was believed to have post-resuscitation hypoxic encephalopathy was highly effective as the patient's general condition recovered to the original state after four months.
Background:
Patients with trisomy 13 have very high infant mortality. However, aggressive interventions for their complications, can improve their prognosis. Thus, the number of long-term survivors with trisomy 13 may increase. There are no studies on their psychomotor developmental progress. We conducted this survey to clarify the prognostic factors, living situations, and developmental status of patients with trisomy 13.
Methods:
Patients with trisomy 13 who were admitted to the Department of Pediatrics, Jichi Medical University Hospital were enrolled. Their clinical data were investigated retrospectively using clinical records.
Results:
Nine patients with trisomy 13 were enrolled and divided into the early death (died at <1 year) and long-term survival (survived for >1 year) groups. All early death group patients had severe congenital heart disease. Heart failure at <1 year of age was associated with early death. All long-term survival group patients underwent operations (e.g., tracheostomy or gastrostomy). All of them used a home nursing and/or a social care service. Three patients used home mechanical ventilation. No patients were able to stand alone or speak significant words. Two patients without severe brain anomalies were able to roll over, sit up and smile by three of age.
Conclusions:
Long-term survivors with trisomy 13 require extensive nursing and medical care. It is important to introduce medical and welfare services to reduce the burden on their families. In patients without severe brain anomalies, psychomotor development may be expected. However, no clear developmental prognostic factors were found.
