-
Advances in Anatomic Pathology Sep 2020Hypoplasia is defined in the Merriman-Webster dictionary as "a condition of arrested development in which an organ, or part, remains below the normal size, or in an... (Review)
Review
Hypoplasia is defined in the Merriman-Webster dictionary as "a condition of arrested development in which an organ, or part, remains below the normal size, or in an immature state." The degree of reduced size is not definitional. Renal hypoplasia, however, has historically been defined as a more marked reduction in renal mass such that presentation in childhood is the norm. There are 3 commonly recognized types of renal hypoplasia, simple hypoplasia, oligomeganephronic hypoplasia (oligomeganephronia) and segmental hypoplasia (Ask-Upmark kidney). They have in common a reduction in the number of renal lobes. A fourth type, not widely recognized, is cortical hypoplasia where nephrogenesis is normal but there is a reduction in the number of nephron generations. Recently there has been great interest in milder degrees of reduced nephron mass, known as oligonephronia because of its association with risk of adult-onset hypertension and chronic kidney disease. Since the last pathology review of this topic was published by Jay Bernstein in 1968, an update of the renal pathology findings in renal hypoplasia is provided with a review of 18 new cases. The renal hypoplasias are then framed within the modern concept of oligonephronia, its diverse causes and prognostic implications.
Topics: Humans; Kidney; Kidney Diseases
PubMed: 32520748
DOI: 10.1097/PAP.0000000000000269 -
Journal of Obstetrics and Gynaecology :... Jul 2022The aim of the current study was to determine the frequency of concomitant anomalies in foetal thoracic hypoplasia and the neonatal outcomes of these pregnancies. This...
The aim of the current study was to determine the frequency of concomitant anomalies in foetal thoracic hypoplasia and the neonatal outcomes of these pregnancies. This retrospective study included 49 cases of foetal thoracic hypoplasia. All of the cases had skeletal system anomalies. Head and face anomalies (36.7%) were the second most frequent accompanying foetal anomaly, and the least common anomaly was genital system anomalies (4.1%). During the follow-ups, 52.6% ( = 10) of the newborns died in the first 24 h of life, 10.5% ( = 2) in the neonatal period and 36.8% ( = 7) in the infantile period.IMPACT STATEMENT Foetal thoracic hypoplasias are lethal anomalies due to inadequate pulmonary development. Data on the other system anomalies that accompany foetuses with thoracic hypoplasia are quite limited in the literature. Moreover, even if the lethal course of thoracic hypoplasia is known, the information on how long newborns will survive is unclear. In this study, most of the cases have additional anomalies, especially skeletal system and head-face anomalies. Approximately half of the newborns with thoracic hypoplasia die within the first 24 h. When we need to consult a family considering the outcome of thoracic hypoplasia, this study can be guiding and helpful. On the other hand, the effects of additional anomalies on the prognosis of foetal and neonatal period are not clear. More studies are needed to better understand the prognosis of thoracic hypoplasias.
Topics: Female; Fetus; Humans; Infant, Newborn; Pregnancy; Prenatal Care; Retrospective Studies; Ultrasonography, Prenatal; Urogenital Abnormalities
PubMed: 34579606
DOI: 10.1080/01443615.2021.1945014 -
Cerebellum (London, England) Aug 2020Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of very rare disorders with reduced volume of pons and cerebellum. The term is purely descriptive and...
Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of very rare disorders with reduced volume of pons and cerebellum. The term is purely descriptive and does not imply a genetic progressive disease. Currently (as of Jan 01, 2020), 13 different types are listed in OMIM (Online Mendelian Inheritance in Man), associated with 19 different genes. However, a large group of similar imaging patterns is known, and it is unclear why some are labeled as PCH, while others are not. The latter include CASK- and VLDLR-associated disorders, some tubulinopathies, certain dystroglycanopathies, a few congenital disorders of glycosylation (CDG) syndromes, several forms associated with rare variants (e.g., DCK1, WDR81, ITPR1), and "cerebellar disruption of prematurity"-an acquired etiology. The objective of this paper is to elaborate a pattern recognition approach, mainly imaging-based, to facilitate a timely and accurate diagnosis, to narrow the differential diagnosis, and to enable targeted additional (genetic) investigations. We describe magnetic resonance imaging (MRI) findings and offer "checklists" for infratentorial findings (e.g., non-lobulated vermis, dragonfly pattern of the cerebellum, cerebellar cysts, brainstem kinking, longitudinal grooves along the brainstem, flat pons) as well as for supratentorial anomalies (e.g., agenesis of corpus callosum, optic atrophy, simplified gyral pattern, and hypomyelination). The clinical context and laboratory investigations need to be considered as well. We also provide a "checklist" for clinical features. A systematic analysis of imaging and clinical features can assist in narrowing the differential diagnosis and permitting more targeted genetic testing. Some imaging patterns are diagnostic.
Topics: Cerebellar Diseases; Humans; Neuroimaging
PubMed: 32410094
DOI: 10.1007/s12311-020-01135-5 -
Journal of Child Neurology Mar 2011The pontocerebellar hypoplasias are a heterogeneous group of rare and devastating conditions characterized by multiple structural abnormalities of the ventral pons,... (Review)
Review
The pontocerebellar hypoplasias are a heterogeneous group of rare and devastating conditions characterized by multiple structural abnormalities of the ventral pons, inferior olive, and cerebellum. Here, we briefly review these conditions and discuss genes recently discovered to be involved in pontocerebellar hypoplasia pathogenesis. We then present data that exclude several genes important for cerebellar development as causes of pontocerebellar hypoplasia-4 and pontocerebellar hypoplasia-5, and we demonstrate that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54. We conclude that classification based on clinical, imaging, and neuropathological findings does not differentiate between pontocerebellar hypoplasia subtypes with different genetic causes.
Topics: Age of Onset; Cerebellum; DNA Mutational Analysis; Endoribonucleases; Genetic Predisposition to Disease; Humans; Mutation; Olivopontocerebellar Atrophies
PubMed: 21383226
DOI: 10.1177/0883073810380047 -
Ophthalmology Jun 2022
Topics: Amblyopia; Humans; Optic Disk; Optic Nerve; Optic Nerve Hypoplasia
PubMed: 35598902
DOI: 10.1016/j.ophtha.2021.11.010 -
Journal of Child Neurology Jul 1986Optic nerve hypoplasia is a developmental anomaly of the retina and optic nerves in which there is a reduction in the number of ganglion cells in the retina and of their... (Review)
Review
Optic nerve hypoplasia is a developmental anomaly of the retina and optic nerves in which there is a reduction in the number of ganglion cells in the retina and of their centripetal fibers projecting through the optic nerve to the lateral geniculate body. The condition may be unilateral or bilateral and is frequently misdiagnosed as optic atrophy. In about 25% of cases, bilateral optic nerve hypoplasia is associated with a variety of cerebral malformations of which the commonest single disturbance is absence of the septum pellucidum (septo-optic dysplasia). Cerebral malformations and their endocrine accompaniments are also seen, though less frequently, in unilateral hypoplasia. The endocrine disturbances that may accompany optic nerve hypoplasia include growth hormone deficiency, adrenal insufficiency, hypothyroidism, and disturbances of antidiuretic hormone production. Precocious puberty and hypogonadism have also been observed. The prognosis of optic nerve hypoplasia depends upon the severity of the changes in the optic nerves and especially the degree of associated cerebral malformation. The finding of optic nerve hypoplasia should lead to thorough ophthalmologic, neurologic, and endocrinologic evaluation of the patient.
Topics: Abnormalities, Multiple; Brain; Endocrine System Diseases; Humans; Infant, Newborn; Optic Nerve; Retina; Septum Pellucidum
PubMed: 3298397
DOI: 10.1177/088307388600100302 -
Minerva Ginecologica Apr 1989On the basis of reported data, uterine hypoplasia is analysed from the morphological as well as the functional viewpoint (myo-endometrial receptivity and reactivity and... (Review)
Review
On the basis of reported data, uterine hypoplasia is analysed from the morphological as well as the functional viewpoint (myo-endometrial receptivity and reactivity and ovarian vascularisation) through the routine use of two new methods of diagnosis: laparoscopy and hysteroscopy. Following the study of the relations between uterine hypoplasia and infertility, it is concluded that a precise therapeutic protocol should be laid down after correct diagnostic procedure.
Topics: Female; Humans; Infertility, Female; Uterus
PubMed: 2677841
DOI: No ID Found -
Australian Dental Journal Jun 2014Abnormalities of enamel and dentine are caused by a variety of interacting factors ranging from genetic defects to environmental insults. The genetic changes associated... (Review)
Review
Abnormalities of enamel and dentine are caused by a variety of interacting factors ranging from genetic defects to environmental insults. The genetic changes associated with some types of enamel and dentine defects have been mapped, and many environmental influences, including medical illnesses that can damage enamel and dentine have been identified. Developmental enamel defects may present as enamel hypoplasia or hypomineralization while dentine defects frequently demonstrate aberrant calcifications and abnormalities of the dentine-pulp complex. Clinically, developmental enamel defects often present with problems of discolouration and aesthetics, tooth sensitivity, and susceptibility to caries, wear and erosion. In contrast, dentine defects are a risk for endodontic complications resulting from dentine hypomineralization and pulpal abnormalities. The main goals of managing developmental abnormalities of enamel and dentine are early diagnosis and improvement of appearance and function by preserving the dentition and preventing complications. However, despite major advances in scientific knowledge regarding the causes of enamel and dentine defects, further research is required in order to translate the knowledge gained in the basic sciences research to accurate clinical diagnosis and successful treatment of the defects.
Topics: Amelogenesis Imperfecta; Dental Caries; Dental Enamel; Dental Enamel Hypoplasia; Dental Research; Dentin; Dentin Sensitivity; Dentinogenesis Imperfecta; Humans; Tooth Demineralization
PubMed: 24164394
DOI: 10.1111/adj.12104 -
European Journal of Medical Genetics Jun 2013Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of autosomal recessive neurodegenerative disorders characterized by hypoplasia of the cerebellum and... (Review)
Review
Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of autosomal recessive neurodegenerative disorders characterized by hypoplasia of the cerebellum and pons, variable cerebral involvement, microcephaly, severe delay in cognitive and motor development, and seizures. Seven different subtypes have been reported (PCH1-7) and mutations in three genes, TSEN2, TSEN34 and TSEN54 encoding three of four subunits of the tRNA splicing endonuclease complex have been found to underlie PCH2, PCH4 and PCH5. PCH2 is characterized by cerebellar hypoplasia affecting the hemispheres more severely than the vermis, progressive cerebral atrophy and microcephaly, dyskinesia, seizures, and death in early childhood. We describe a male patient with progressive microcephaly, severe hypotonia, and myoclonic-tonic seizures. Brain MRI confirmed microcephaly with simplified cortical gyration and revealed hypoplasia of the brainstem, cerebellum and cerebellar vermis. Sequencing of the TSEN2 gene detected the novel missense mutation c.934G > A (p.G312R) on one allele and the first nonsense mutation c.691C > T (p.Q231*) on the second allele. Although the cytosine-to-thymine transition results in introduction of a premature stop codon in the majority of annotated TSEN2 transcript variants, it could represent a splice site mutation (c.517-3C > T) in variant 4. However, by RT-PCR analysis we did not identify mRNAs representing TSEN2 transcript form 4 in leukocyte-derived RNA of the patient and healthy individuals. The clinical phenotype of the patient is comparable with PCH2. However, we noticed decreased cerebral volume with increased extra-axial cerebrospinal fluid spaces and wide-open Sylvian fissures indicating cerebral immaturity that might be associated with the TSEN2 null allele. We conclude that the severity of pontocerebellar hypoplasia in the patient fits PCH2, while the large involvement of the cerebrum better corresponds to PCH4 demonstrating the phenotypic spectrum of PCH2 and 4. To establish a possible genotype-phenotype correlation, more individuals with biallelic TSEN2 mutations need to be investigated.
Topics: Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Brain; Child, Preschool; Endoribonucleases; Exons; Gene Order; Genetic Association Studies; Humans; Magnetic Resonance Imaging; Male; Molecular Sequence Data; Mutation; Olivopontocerebellar Atrophies; Sequence Alignment
PubMed: 23562994
DOI: 10.1016/j.ejmg.2013.03.009 -
Ryoikibetsu Shokogun Shirizu 2001
Review
Topics: Abnormalities, Multiple; Hernia, Umbilical; Humans; Larynx; Pharynx; Syndrome
PubMed: 11528862
DOI: No ID Found