Any posterior midline cystic or soft tissue scalp mass in an infant needs evaluation with MRI brain and MRV brain to look for intracranial extension of the lesion. One of the differential considerations is an atretic cephalocele, which can be a difficult diagnosis, especially when the cystic lesions are small. The presence of a small calvarial defect adjacent to the cystic mass and a persistent primitive falcine vein, which points towards the cystic mass, are imaging clues to this diagnosis. Correct diagnosis is needed prior to surgical resection to avoid potentially serious postoperative complications.

OBJECTIVE: The purpose of this report is to investigate the association of atretic cephalocele (AC) with sinus pericranii (SP) in order to improve the management of AC.
METHODS: Pediatric patients with AC who underwent repair surgeries were retrospectively analyzed. Anomalies including SP were evaluated using computed tomography angiography and venography (CTA/V) as well as magnetic resonance imaging.
RESULTS: Fourteen patients were identified, comprising of 5 males and 9 females. The AC was located interparietally in 8 cases and occipitally in 6 cases. Seven cases (50%) were found to be associated with SP, all of which did not involve major intracranial venous circulation. Five out of 8 parietal ACs (63%) were accompanied by SP, while 2 out of 6 occipital ACs (33%) exhibited SP. All of the SP associated with AC only contributed to a small portion of the venous outflow, and the repair surgeries were successfully performed without excessive bleeding.
CONCLUSIONS: More than half of the ACs were associated with SP, with a higher prevalence in the parietal region compared to the occipital region. For the appropriate management of AC, preoperative investigation of SP using CT venography is considered important.

Atretic cephaloceles (ACs) are congenital skull defects with herniation of rudimentary intracranial structures through the defect and associated with persistent falcine sinus or embryonic positioning of straight sinus. We describe five cases of ACs, out of which only one had embryonic straight sinus. Three cases had other intracranial malformations such as hypoplasia of corpus callosum, dysplastic tectum in one child and parieto-occipital polymicrogyria with falcotentorial dehiscence in the other, and frontal horn deformity and cortical dysplasia in the third. The prognosis of AC depends on the coexistent intracranial abnormalities and this highlights the role of magnetic resonance imaging in diagnosing the other associated anomalies for prediction of prognosis and planning of necessary surgical management.

BACKGROUND: Encephaloceles are neural tube defects characterized by herniation of meninges, neural tissue and cerebrospinal fluid, while atretic cephaloceles denote a rudimentary connection to the intracranial space with absence of herniated neural tissue and represent an infrequent dermatopathologic diagnosis. Limited reports of these entities confound the challenge in their histopathologic distinction. Accurate classification is important given associated anomalies and neurologic manifestations that impact prognosis.
METHODS: We describe the clinicopathological and immunohistochemical [glial fibrillary acidic protein (GFAP), S100, epithelial membrane antigen (EMA), and somatostatin receptor subtype 2A (SSTR2A)] features in a retrospective series encountered at a single institution between 1994 and 2020.
RESULTS: We identified 13 cases classified as atretic cephalocele (n = 11) and encephalocele (n = 2). Hamartomatous changes and multinucleated cells were unique to atretic cephaloceles while myxoid areas were unique to encephaloceles. At least focal staining for SSTRA was seen in all atretic cephaloceles with the majority (87.5%) staining for EMA; negative staining for GFAP and S100 confirmed absence of neural tissue. Encephaloceles were GFAP and S100 positive, and negative for SSTR2 and EMA. Atretic cephaloceles had a favorable prognosis compared to encephaloceles, with severe morbidity present in both encephalocele cases.
CONCLUSIONS: Our study raises awareness of atretic cephalocele and encephalocele among dermatopathologists and reveals a mutually exclusive immunophenotype that facilitates their distinction for prognostication and management.

Joubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar and brain stem malformation called the molar tooth sign. It may present with different organ involvement or with other neurological alterations such as Dandy-Walker syndrome. Joubert syndrome with dandy walker syndrome is called Joubert-Plus syndrome, an exceedingly rare entity. Dandy-Walker syndrome is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Atretic cephalocele is another rare diagnosis which is characterized by a herniation of intracranial contents through a skull defect. Herein, we present a case of a 6-month-old patient who presented with floppiness and a scalp nodule. After further evaluation, he was diagnosed with Joubert-Plus syndrome with an atretic cephalocele.

UNASSIGNED: Parietal atretic cephalocele (PAC) is a small, subscalp lesion with underlying extracranial meningeal, neural, and glial tissues. In this paper, we analyze the related literature on the continuum of PAC-associated venous anomalies and report an exemplary case.
UNASSIGNED: The PubMed Medline database was searched using the following search algorithm: (Atretic encephalocele) OR (Rudimentary meningocele,) OR (Atypical meningocele) OR (Meningocele manqué) OR (Meningeal heterotopia). Only papers detailing the venous anomalies associated with PACs have been included.
UNASSIGNED: A total of 30 papers in our search documented PAC-associated venous abnormalities. The overall number of cases reported was 68 (including our exemplary case). The most frequently identified associated venous anomaly was the presence of a \"fenestrated superior sagittal sinus\" recorded in 48.5% of cases (n = 33), followed closely by \"persistent falcine sinus\" in 47% (n = 32) and vertical embryonic positioning of the straight sinus (SS) in 44% (n = 30). The complete absence of a SS was reported in 39.7% (n = 27) and various anomalies of the Galenic system were reported in 26.8% of cases (n = 12).
UNASSIGNED: Although benign in nature, PACs are often a marker for the presence of complex and variable cerebral venous malformations, requiring extensive preoperative imaging workup for both the superficial and deep venous systems to obtain an accurate understanding of the anatomy of the venous system and guide surgical planning.

The existing data on the neurodevelopmental outcome of children born with an isolated atretic cephalocele (IAC) are scant. We aimed to expand upon these data by describing our experience with affected children, as well as assist parents and clinicians in deciding how to proceed when an IAC is diagnosed prenatally.
A follow-up study was conducted on nine children who were born with an IAC. Evaluations were performed by pediatric neurologists and child development specialists. Developmental outcomes were based on a global development evaluation that assessed gross and fine motor skills, receptive and expressive language levels, activities of daily living, communication skills, and social domains. Adaptive skills were estimated by the Adaptive Behavior Assessment System, Second Edition.
None of the nine children (median age 4 years and 6 months) had abnormal findings on neurological examination. Six children had age-appropriate developmental milestones, two had a mild motor delay, and one had mild expressive language delay (catchup was achieved by all of the latter three by ~ 3.5 years of age). The mean general adaptive composite score was 105 ± 11.7 (normal = 100). None of the children had behavioral, social, or communication problems.
Children diagnosed with an IAC with/without a falcine sinus and devoid of coexisting intracranial abnormalities seem to have a normal neurodevelopmental outcome. Continuation of pregnancy may be recommended when an IAC is detected prenatally, and reassurance if detected postnatally.

Common presentation of atretic parietal cephalocele is mostly seen in infants and young children. It is a palpable midline parietal soft tissue mass which is thought to represent involuted true cephalocele (meningocele or encephalocele) connected to dura mater via a fibrous stalk. Atretic parietal cephalocele is associated with increased incidence of intracranial anomalies.. Parietal cephaloceles comprise about 1% of all cerebrospinal congenital malformations and 10% of cephaloceles. We report here the case of an atretic parietal cephalocele with no associated brain malformations in adult.

OBJECTIVE: This study aims to analyze the historical cohort of patients with atretic cephaloceles (ACs) comprehensively, since the literature regarding ACs is limited by small case series or case reports and to report a new venous anomaly concomitant with a parietal AC in our exemplary case.
METHODS: After a PubMed/Medline search with \"atretic cephalocele\" in April 2016, we retrieved 42 articles, 41 of which were relevant with the topic. Full texts of accessible articles and abstracts of inaccessible articles were read comprehensively. References of retrieved articles were manually searched. Additional 29 articles reporting the cases of atretic, rudimentary, occult, or sequestered cephaloceles were accessed, since these terms have been used interchangeably in the literature.
RESULTS: Median age and mean age of the patients were 1 and 6.69 years, respectively. Female/male ratio was 1.03:1. Atretic cephaloceles were located in different regions, in decreasing order of frequency: parietal (55 %; n = 105), occipital (37 %; n = 71), parieto-occipital (n = 8), frontal (n = 4), asterion (n = 1), and sincipital (n = 1). Concomitant central nervous system (CNS) anomalies were present in 73.3 % of patients with parietal atretic cephaloceles and in 32.4 % of patients with occipital atretic cephaloceles (p < 0.0001). We realized that all patients with worse outcomes had concomitant CNS anomalies (100 %), whereas only 48 % of those with good clinical outcomes had concomitant anomalies (p = 0.0248).
CONCLUSIONS: Atretic cephaloceles present as nodular extrusions on the parietal and occipital regions. Concomitant CNS anomalies, which impair the clinical outcomes, are more common in patients with parietal ACs. Observation-only approach is enough in patients with asymptomatic ACs. However, life-long follow-ups are required, because of recurrence after the surgery.

We describe a case of atretic cephalocele (AC) characterized by the presence of various cerebral anomalies of different midline structures. In our patient the presence of a parietal AC was associated with an embryonic position of the straight sinus, fenestration of the superior sagittal sinus, an abnormal insertion of the cerebellar tentorium with prominence of the superior cerebellar cistern and a septum pellucidum cyst. These findings, associated with AC, could lead to a worse prognosis with regard to neurodevelopmental milestones. This suggests that even if AC is a benign lesion, a complete evaluation of the brain structures should always be performed in these young patients.