Importance of etiologic diagnosis of hydrocephalus as illustrated by a case of Walker Warburg syndrome.
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Cerebral Ventricles↗
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Multiple ophthalmic anomalies and digital hypoplasia.
Multiple congenital eye and hand anomalies occurred in a young female born to normal but consanguineous parents. Both eyes were microphthalmic with severe corneal, iris lens pathology. Ultrasonography revealed multiple echos from the vitreous. The ocular findings are suggestive of retinal dysplasia. A skeletal dysplasia, presenting as distal phalangeal hypoplasia, was found in both hands. There was no history of intrauterine exposure to drugs. This appears to be a unique association of congenital malformations, without other systemic involvement. Diagnostic and genetic implications are discussed.
Abnormalities, Multiple↗
[Histological studies in the developing eyelids of congenital microphthalmic (Cts) mice].
The Cts mouse is a mutant of the Jcl:ICR strain with congenital cataract and small eyes in homozygotes. In the present study, attempts were made to measure postnatally the palpebral fissure and to examine the process of eyelid development by light microscopy in both normal (+/+) and homozygous (Cts/Cts) mice. The width of the palpebral fissure in homozygotes was significantly smaller than in unaffected mice. To investigate the process of eyelid development, tissue specimens from normal and Cts homozygous mice were prepared with hematoxylin and eosin, and observed by light microscopy on days 14, 16, and 18 of gestation and on days 0, 7, and 14 after birth. In both groups, the eyelid fused on day 16 of gestation and opened completely on day 14 after birth. The primordium of the orbicularis oculi muscle was defined on day 16 of gestation, and the primordia of hair follicles and Meibomian glands were detected on day 18 of gestation. In the present study, there were no significant differences in the process of eyelid development between normal and homozygous mice. Eyelid development has thus far been thought to be self-determining and not affected by tissue interaction, and the present findings support this line of thought.
Animals↗
[Surgical treatment of micro-ophthalmic syndromes].
The complex embryology of the oculo-orbito-palpebral region is responsible for a number of heterogeneous clinicopathological situations, associating variable proportions of the three components of the malformation: micro-anophthalmia, microblepharism, micro-orbitism. Application of the double principle of skin expansion for the eyelids and distraction of the callus for the orbit, as early as possible (first year of life), is possible by means of a device which consists of a combination of an intraorbital expansion balloon, an antireflux valve to avoid effective pressure losses in the balloon, and an injection site for progressive filling of the expansion balloon. The response to these treatments is excellent for cases of simple microphthalmia and micro-orbitism; in complex craniofacial malformations, it generally only partially resolves the problem, but provides a precious complement to the quality of the final repair.
Humans↗
[Anesthetic management of a child with Lenz dysplasia associated with panhypopituitarism].
We present a child with Lenz dysplasia associated with panhypopituitarism. Lenz dysplasia is characterized by small eyeball, small head, hydronephrosis, cleft lip and palate, and mental retardation. A 12 month-old boy with Lenz dysplasia was scheduled for plasty of the lip and basis of the nasal cavity under general anesthesia. We had to pay attention for airway management and hormone supplementation. Anesthesia was induced with sevoflurane and nitrous oxide in oxygen. Tracheal intubation was facilitated with vecuronium bromide. We had no difficulty in airway management. Since this patient could not release enough endogenous cortisol in response to the stress of surgery, we supplemented hydrocortisone after anesthesia induction. Urine output and serum electrolyte concentrations were carefully monitored during surgery because of the impaired ADH response. We encountered no complications in the anesthetic management of this patient.
Anesthesia, General↗
[Single umbilical artery (SUA) and congenital eye abnormalities. 2 case reports].
Two cases of single umbilical artery (SUA) are reported, associated respectively with unilateral microphthalmia the first case, with bilateral congenital glaucoma (buphthalmos) the second one. While the association between single umbilical artery and microphthalmia is reported in international literature, the association between single umbilical artery and congenital glaucoma (buphthalmos) described for the first time.
Eye Abnormalities↗
[Anophthalmia and accompanying malformations (author's transl)].
Six children with bilateral or unilateral anophthalmia were described. Malformations of the face and the extremities, stunted growth, hydrocephalus, muscle hypotony and mental retardation in varying degrees and combinations were also found. The genesis is not clear. With two siblings who exibited a combination which has not been described previously of anophtalmia on one side and microphthalmia on the other together with a cutaneous hexadactyly, the fact that the combination occurs in both children and that the mother exibits a "incomplete form" (?) of the ophthalmologic symptom tends to indicate that the cause is genetic.
Abnormalities, Multiple↗
TFEC is a macrophage-restricted member of the microphthalmia-TFE subfamily of basic helix-loop-helix leucine zipper transcription factors.
The murine homologue of the TFEC was cloned as part of an analysis of the expression of the microphthalmia-TFE (MiT) subfamily of transcription factors in macrophages. TFEC, which most likely acts as a transcriptional repressor in heterodimers with other MiT family members, was identified in cells of the mononuclear phagocyte lineage, coexpressed with all other known MiT subfamily members (Mitf, TFE3, TFEB). Northern blot analysis of several different cell lineages indicated that the expression of murine TFEC (mTFEC) was restricted to macrophages. A 600-bp fragment of the TATA-less putative proximal promoter of TFEC shares features with many known macrophage-specific promoters and preferentially directs luciferase expression in the RAW264.7 macrophage cell line in transient transfection assays. Five of six putative Ets motifs identified in the TFEC promoter bind the macrophage-restricted transcription factor PU.1 under in vitro conditions and in transfected 3T3 fibroblasts; the minimal luciferase activity of the TFEC promoter could be induced by coexpression of PU.1 or the related transcription factor Ets-2. The functional importance of the tissue-restricted expression of TFEC and a possible role in macrophage-specific gene regulation require further investigation, but are likely to be linked to the role of the other MiT family members in this lineage.
Amino Acid Sequence↗